Calculated Gene Frequencies Research Articles

Distribution of ABO and Rhesus (D) blood group antigens among the Indian Kami population from the Sub-Himalayan region of West Bengal and Sikkim, India

Abstract BACKGROUND: Limited information is available regarding the distribution of ABO and Rhesus (Rh) blood groups among the populations from the sub-Himalayan regions. The present study was undertaken to understand the phenotypic, genotypic, and allelic frequencies of ABO and Rh antigens among the Kami population. METHODS: A total of 1420 Kami individuals were included in the study from the sub-Himalayan region of West Bengal and Sikkim. The ABO and RhD blood groups were determined among 158 individuals by standard slide agglutination method, and from 1262 individuals blood group, data were collected who had undergone routine blood group tests in diagnostic laboratories. RESULTS: The frequency of blood group O (31.06%) was found to be the highest followed by B (29.15%), A (27.54%), and AB (12.25%). A total of 97.89% individuals were Rh (D) positive and 2.11% were Rh (D) negative. The allele frequencies of ABO were found to be 0.200 for IA (p), 0.243 for IB (q), and 0.557 for IO (r). For Rh (D), the calculated gene frequencies were 0.855 for Rh positive (ID) and 0.145 for Rh negative (Id). Among the subcaste of Kami population, a significantly high frequency of blood group A was observed among Baraily and Lamgade, O among Sashankar, Dural, Diyali, and Dutraj, and B among Ramudamu, Koirala, and Silal. CONCLUSION: The study is the first of its kind to comprehensively describe the ABO blood group distribution among the Kami population which shows the same trend as the general Indian population.

Qualitative mutant traits within the indigenous chicken population in selected ecological zones of Ghana

A study was carried out to find out the various mutant traits present in the indigenous chicken population and their influence on egg production in the three ecological zones of Ghana. Four hundred and five (405) households were purposively selected across the Guinea Savannah, Semi-deciduous Rain Forest and Coastal Savannah ecological zones. Structured questionnaire and on-site interviews were used to obtain information from the local chicken keepers. The individual birds were phenotypically observed for the presence of the following genes; frizzle, naked neck, silkiness, polydactyl, ptilopody, crest feathered and flightless. Data on flightless chickens were not available except their gene frequencies since the respondents do not keep them for economic purposes. The data collected were organised and analysed such that phenotypic groups were considered as treatments and ecological zones as blocks. The frequency of the genes responsible for mutant traits were obtained from a count of the proportion of recessive in the sample using the Hardy Weinberg rule. The calculated gene frequencies for the mutant traits observed within the local chicken population ranged from 0.01 to 0.05 which differed significantly (p<0.05) from the expected Mendelian values of 0.75. Average clutch size per year, number of eggs set and chicks hatched per natural incubation were not significantly different (p>0.05) among the three ecological zones. The percentage hatchability for Guinea savannah and Coastal savannah were relatively higher compared to Semi-deciduous rain forest. In terms of phenotypes, polydactyl birds were significantly better (p<0.05) in average eggs per clutch per bird, number of eggs set for natural incubation and number of chicks hatched. Despite the low frequencies of these mutant birds, they had a higher potential for egg laying compared to their recessive counterparts.

Frequencies of different phenotypes and body parameters of mature indigenous chicken in deciduous rainforest zone of Nigeria

The study was conducted using 800 adult local chickens comprising 355 males and 445 females, which were obtained from 2 major markets in Ado Ekiti, the capital city of Ekiti state, Nigeria. Convenience sampling technique was employed in selecting animals for observation. The birds were individually observed for phenotypic expression of shank colour, feather morphology, feather structure, polydactyly, ptylopody and comb types. The number in each group was expressed as a percentage of the total number of birds. The body size parameters measured include body weight, body girth, body length, shank length, wing length, toe length, keel length and shank diameter. The result revealed that the phenotypic frequencies of birds with dominant genes for feather morphology (FF, Ff), feather structure (NaNa + Nana), poly dactyl (PoPo + Popo) and ptylopods (FshFsh + Fshfsh) were 0.033, 0.037, 0.042 and 0.046 respectively, while that of the recessive gene carriers were 0.967, 0.963, 0.958 and 0.954 respectively. The calculated gene frequencies for frizzled (F), Naked neck (Na), Polydactyly (Po) and ptylopods (Fsh) were 0.035, 0.024, 0.034 and 0.035 respectively. The local chicken showed different plumage coloration with black, brown and pink predominating. The male birds were superior to their female counterparts with significant differences (P&lt;0.05) in all the parameters measured except weight.

Distribution of Blood Types and ABO Gene Frequencies in Egypt

Abstract ABO blood group was first discovered by Landsteiner in 1901. Currently, there are more than 30 blood group systems, but ABO system remains the most clinically important of all blood groups in transfusion practice. The ABO blood group system antibodies are naturally occurring without any exposure to RBCs through transfusion or pregnancy, unlike the other blood group systems. Method The study was performed on a total of 40,591 healthy blood donors in Egypt. ABO and Rh (D) groupings were performed on all donors’ samples. Data on the frequency of ABO and Rh(D) blood groups were reported in numbers and percentages. Results The study showed that type A is the most common blood group (35.12%) in Egypt followed by O at 31.94%, followed by B at 23.12%, while AB had the least prevalence at 9.74%; A &gt; O &gt; B &gt; AB. Our study showed that 91.78% of the donor population were Rh positive and 8.22% were Rh negative. The frequencies of the IA, IB, and IO alleles were calculated using the Hardy-Weinberg law of equilibrium. The calculated gene frequencies are 0.2537 for IA (p), 0.1812 for IB (q), and 0.5651 for IO (r). In the Egyptian population, O (r) records the highest value, followed by B (q) and A (p); O &gt; B &gt; A. The homozygous types were as follows: OO, 31.94%; AA, 6.43%; and BB, 3.28%. The heterozygous types were AO, 28.67%; BO, 20.47%; and AB, 9.78%. Conclusions The study provides the first accurate ABO gene frequency data as well as information on the distribution of ABO blood group Rh groups of various alleles in the Egyptian population. This information is very helpful in the effective management of the blood bank inventory. It will help transfusion services planning for future health challenge and improve blood transfusion practice.

Red blood cell phenotyping of blood donors in Islamabad, Pakistan

Background: There are 33 blood groups identified so far representing more than 300 antigens. The blood transfusion services in resource-limited countries including Pakistan only test for ABO and RhD antigens during cross-matching. However, the transfusion of ABO-RhD compatible but unknown phenotype blood may result in alloimmunization, especially in multi-transfused patients. Aims: The aim of this study is to investigate the prevalence of clinically significant minor blood group antigens in population of Islamabad, Pakistan. Settings and Design: A prospective study was conducted at the Department of Blood Transfusion Services, Islamabad. Subjects and Methods: Blood samples from 625 randomly selected blood donors were collected for extended antigen typing. Blood grouping was performed using commercially available antisera. The statistical analysis was done using SPSS version 20.0. Gene frequencies were calculated using the Hardy–Weinberg equation. Results: Of the 625 blood donors, 575 were RhD positive (92%) and 50 (8%) were RhD negative. The frequencies of A, B, AB, and O antigens were (24.64%), (34.72%), (9.28%), and (31.36%), while antigen frequency of K was 4%, Duffy (Fya) 58.24%, Duffy (Fyb) 39.84%, Kidd (Jka) 65.28%, Kidd (Jkb) 42.24%, M 86.88%, N 46.24%, S s49.44%, and s 30.4%. Calculated gene frequency for Kell K was (0.04), Duffy Fya (0.481), Fyb (0.519), Kidd JKa (0.538), JKb (0.462), M (0.699), N (0.301), S (0.445), and s (0.556). Conclusions: The current study depicts the prevalence of the blood group antigens among Pakistani blood donors to be statistically different from those in Caucasians, Chinese, and African populations.

Phenotypic characterization of the indigenous chickens &amp;lt;i&amp;gt;(Gallus gallus)&amp;lt;/i&amp;gt; in the northwest of Algeria

Abstract. This study was conducted to characterize local chickens in the northwest of Algeria based on some phenotypic traits and to look at prediction of body weight from morphometric measurements (linear body). The results indicated that the predominant comb colour was dark red (77.8 %), followed by light red (22.2 %). Tarsus colour was either white (40.9 %), grey (31 %), yellow (15.39 %), dark (8.05 %), or green (4.51 %). Most chickens (81.7 %) had orange eyes, while 10.37 and 7.92 % had yellow and dark-brown eyes, respectively. The dominant earlobe colour was white (73.96 %), followed by red (16.81 %). The remaining proportion included yellow and red-mottled yellow and black earlobes. Proportions of the adaptive genes were low. Incidences of Na, F, Pti, Cr, R, and P genes were 8.82, 0.45, 1.22, 5.54, 3.35, and 4.7 %, respectively. The calculated gene frequencies ranged from 0.002 to 0.045. Variations were also found in quantitative morphological traits. Sex-associated differences (P &lt; 0.001) were observed in almost all the parameters evaluated with higher values recorded for males. Phenotypic correlations of body weight and biometric traits ranged from −0.13 to 0.88 and −0.15 to 0.97 for males and females, respectively. From the factor analysis with varimax rotation of the intercorrelated traits, three principal components which accounted for 71.6 and 73.2 % of the total variance were extracted in males and females, respectively. Orthogonal body shape characters derived from the factor analysis accounted for 84.3 and 94.2 % of the variation in body weight of males and females, respectively. Information obtained from this study could be useful in an appropriate management, breeding programmes for selection and utilization of Algerian chicken genetic resources.

Estimating the Risk of ABO Hemolytic Disease of the Newborn in Lagos.

Background. ABO hemolytic disease of the newborn is the most common hemolytic consequence of maternofetal blood group incompatibility restricted mostly to non-group-O babies of group O mothers with immune anti-A or anti-B antibodies. Aim. We estimated the risk of ABO HDN with view to determining need for routine screening for ABO incompatibility between mother and fetus. Materials and Methods. Prevalence of ABO blood group phenotypes in blood donors at the donor clinic of the Lagos University Teaching Hospital and arithmetic methods were used to determine population prevalence of ABO genes. We then estimated proportion of pregnancies of group O mothers carrying a non-group-O baby and the risk that maternofetal ABO incompatibility will cause clinical ABO HDN. Results. Blood from 9138 donors was ABO typed. 54.3%, 23%, 19.4%, and 3.3% were blood groups O, A, B, and AB, respectively. Calculated gene frequencies were 0.1416, 0.1209, and 0.7375 for A, B, and O genes, respectively. It was estimated that 14.3% of deliveries will result in a blood group O woman giving birth to a child who is non-group-O. Approximately 4.3% of deliveries are likely to suffer ABO HDN with 2.7% prone to suffer from moderately severe to severe hemolysis.

Distribution of ABO and rhesus (D) blood group antigens among blood donors at a tertiary care teaching hospital blood bank in south India

Background: The ABO and Rhesus (Rh) blood group systems are important for transfusion of blood and its components, organ transplantation, genetic studies and in medico-legal issues. Despite the long list of several other blood groups discovered so far, the knowledge and distribution of ABO and Rh-D blood group are essential for effective management of blood bank inventory. Methods: We retrospectively studied the distribution of ABO and Rh blood group antigens in donors presenting to our tertiary care teaching hospital blood bank in south India during the period January 2007 to August 2014. Blood group was determined by commercially available standard monoclonal antisera by test tube agglutination technique. Results: A total of 49,110 donor samples were tested during the study period for ABO grouping and Rh-D typing. Out of these 96.9% were males. The frequency of O, B, A, AB and Bombay blood groups were 41.7%, 32.2% 20%, 6.1% and 0.03% respectively. Rh (D) positive and negative blood groups were seen in 92.8% and 7.2% respectively. The allele frequencies of the IA, IB and IO alleles were 0.1398, 0.2148 and 0.6454 respectively. In case of Rh-D group, the calculated gene frequencies for ID and Id were 0.7321 and 0.2679 respectively. Conclusion: Knowledge of blood group systems as documented in the present study helps in efficient manage- ment of blood bank and transfusion services in emergencies.

ABO and Rh (D) group distribution and gene frequency; the first multicentric study in India.

Background and Objectives:The study was undertaken with the objective to provide data on the ABO and Rh(D) blood group distribution and gene frequency across India.Materials and Methods:A total of 10,000 healthy blood donors donating in blood banks situated in five different geographical regions of the country (North, South, East and Center) were included in the study. ABO and Rh (D) grouping was performed on all these samples. Data on the frequency of ABO and Rh(D) blood groups was reported in simple numbers and percentages.Results:The study showed that O was the most common blood group (37.12%) in the country closely followed by B at 32.26%, followed by A at 22.88% while AB was the least prevalent group at 7.74%. 94.61% of the donor population was Rh positive and the rest were Rh negative. Regional variations were observed in the distribution. Using the maximum likelihood method, the frequencies of the IA, IB and IO alleles were calculated and tested according to the Hardy Weinberg law of Equilibrium. The calculated gene frequencies are 0.1653 for IA (p), 0.2254 for IB (q) and 0.6093 for IO (r). In Indian Population, O (r) records the highest value followed by B (q) and A (p); O > B > A.Conclusion:The study provides information about the relative distribution of various alleles in the Indian population both on a pan-India basis as well as region-wise. This vital information may be helpful in planning for future health challenges, particularly planning with regards to blood transfusion services.

Frequency and effect of spur gene on metric parameters in the Nigerian local chicken in Niger state

A study on the frequency and effect of spur gene (sI) on some metric parameters in the Nigerian local chicken was conducted on 750 adult free range indigenous chickens brought to the market for sale in the three administrative zones of Niger state, Nigeria. The parameters measured were body weight (BL), body length (BL), body girth (BG), wing length (WL), shank length (SL) and shank thickness (ST). The result shows that the calculated gene frequencies of 0.87, 0.89 and 0.90 were significantly (P&lt;0.05) higher than the expected Mendelian frequency of 0.75 for dominant alleles. Spurred (sI) birds in zone C were significantly (P&lt;0.01) heavier (2.19kg) than those in zone A (1.58kg) and zone B (1.50kg). Spurred birds from zone C were also significantly (P&lt;0.01) longer (43.8cm), had better body girth (26.1cm), wing length (24.5cm), shank length (11.7cm) and shank thickness (1.23cm) respectively. It was concluded that spurred (sI) birds in zone C performed relatively better in most of the parameters measured.Keywords: Spur, metric parameters, Nigerian local chicken, frequency.

Pedigree Analysis of Factor XI Deficiency in Japanese Black Cattle

Using a DNA-based diagnostic test for factor XI deficiency in Japanese black cattle, we surveyed 123 cattle (42 sires and 81 dams) in Gifu and Hyogo prefectures, and calculated gene frequencies. In sires, we drew up the pedigree network of the cattle with the factor XI deficiency. Results showed that the mutated allele of factor XI deficiency was retroactive in at least 6 or more generations of sires. Frequencies of the mutant gene were higher at 26.4% in total, and at 33.3% in sires. All 7 cattle with the homozygote of mutated allele were clinically normal, and showed no bleeding episodes. The mutated allele of factor XI deficiency might be widespread among Japanese black cattle.

Allele frequencies and molecular genotyping of the ABO blood group system in a Kuwaiti population.

The phenotypic distributions of observed numbers of ABO blood groups in a Kuwaiti sample population of 18,558 subjects are 4962 (26.7%) with A, 4,462 (24.1%) with B, 858 (4.6%) with AB, and 8,276 (44.6%) with 0. The calculated gene frequencies are 0.6678 for ABO*O, 0.1768 for ABO*A, and 0.1554 for ABO*B. Molecular genotyping of the ABO blood group system in a Kuwaiti sample population was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The positions of nucleotides 258 and 700 of cDNA from A transferase were amplified by PCR. The amplified DNA was subjected to RFLP analysis to distinguish A, B, and O alleles. Blood samples of known ABO phenotype from 101 healthy unrelated Kuwaiti individuals (A, 29; B, 23; AB, 14; O,35) were used. Two DNA fragments of the ABO locus were designed to be amplified by 2 pairs of primers. To identify the 258th nucleotide, a 199- or 200-bp DNA fragment was amplified by PCR and digested with KpnI. For the 700th nucleotide, a 128-bp DNA fragment was amplified by PCR and digested with AluI. By analyzing the electrophoresis patterns,ABO genotypes were conclusively determined by examining the DNA fragments. The ABO genotypes of the known 101 samples were as follows: AA, 4.30%; AO, 24.41%; BB, 4.16%; BO, 24.2%; AB, 8.46%; and 00, 34.65%. These results were confirmed statistically using the calculated frequencies of IA, IB, and IO alleles.

Polymorphic analysis of the high-affinity tumor necrosis factor receptor 2.

The tumor necrosis factor receptor 2 (TNF-RII, CD120b, TNF-R p75/80) gene has recently been characterised. It is located on chromosome 1p362 and consists of 10 exons and 9 introns A number of biallelic polymorphisms have been found in exons 4, 6, 9 and 10 based on differences between published sequences. In this study we have used polymerase chain reaction methodology in association with sequence-specific primers (PCR-SSP) incorporating mismatches at the 3' end to identify these polymorphisms. We were able to confirm the presence of a single biallelic polymorphism in exon 6 corresponding to a (T/G) at nucleotide 676 of TNF-RII mRNA (gb:M32315) which results in an amino acid change and three biallelic polymorphisms in exon 10 (in the3'UTR) corresponding to (A/G) at nucleotide 1663, (T/G) at nucleotide 1668 and a (C/T) at nucleotide 1690 of gb:M32315, whereas no polymorphisms were observed in exons 4 and 9. Here we report that in 192 unrelated UK Caucasian individuals the allele frequencies determined by direct counting were: 676-T (0.77), 1663-G (0.51), 1668-T (0.95), and 1690-T (0.64) and the calculated gene frequencies were; 676-T (0.52), 676-G (0.12); 1663-G (0.30), 1663-A (0.28); 1668-T (0.77), 1668-G (0.025); and 1690-T (0.40), 1690-C (0.20). Furthermore, the presence of an A allele at nucleotide position 1663 was found to be strongly associated with the presence of a C allele at nucleotide position 1690 and a G allele at nucleotide position 1668 whereas the presence of a G allele at position 1663 was associated with the absence of a C allele at nucleotide position 1690.

Pars planitis: Clinical features and class II HLA associations

ObjectiveTo describe a cohort of patients with pars planitis followed at a single tertiary care institution, determine the frequency of multiple sclerosis and/or optic neuritis in patients with this disorder, and calculate gene frequencies of human leukocyte antigen (HLA) class II alleles in these patients. DesignFifty-three patients with the diagnosis of pars planitis underwent clinical record review or telephone interview for follow-up or both; 32 of these underwent phlebotomy for analysis of HLA class II alleles. Main outcome measuresOutcomes included visual acuity, occurrence of multiple sclerosis and/or optic neuritis, and HLA class II gene frequencies. ResultsWith a mean follow-up of 2 years, approximately 90% of patients maintained a visual acuity better than 20/40 in at least one eye. The most frequently encountered ophthalmic complications included cystoid macular edema, cataract, and epiretinal membrane formation. Of 37 patients with pars planitis who had medical or neurologic follow-up evaluations, 6 (16.2%) developed multiple sclerosis. The HLA-DR15 allele, coding for one of the two HLA-DR2 subtypes, was associated with pars planitis (odds ratio = 2.86, 95% confidence interval = 1.42–5.78, P = 0.004). ConclusionsA common immunogenetic predisposition to multiple sclerosis and pars planitis may be associated with the HLA-DR15 allele. This association may represent genetic linkage to the HLA-DR locus or a role for the HLA-DR15 gene product in the pathogenesis of both of these diseases.

Band 3‐Memphis is associated with a lower transport rate of phosphoenolpyruvate

Band 3-Memphis is the most common variant of erythrocyte band 3 protein, in which a single amino acid substitution (Lys56-->Glu) in a cytoplasmic domain of band 3 has been found. We showed here that the prevalence of the variant was particularly higher in the Japanese population than that in other populations. The calculated gene frequency of the variant in Japanese was 0.156, which was about 4 times higher than that in Caucasian. Although it has been generally accepted that the cytoplasmic domain of band 3 bears no relation to anion transport activity, we found that the transport rate of phosphoenolpyruvate in erythrocytes of homozygotes was decreased to about 80% of that in control cells, and that of heterozygotes was at an intermediate level. The evidence indicates that some structural changes in the cytoplasmic domain of band 3 may have influence on the conformation of anion transport system.

Genetic polymorphism of sorbitol dehydrogenase in the brown hare and the distribution of the variation in Central Europe

A genetic polymorphism of sorbitol dehydrogenase (SDH; EC 1.1.1.14) for two allozymes is demonstrated in the brown hare (Lepus europaeus) by means of horizontal starch gel electrophoresis. Segregation analysis was performed in a sample of four matings with 12 offspring and confirmed the genetic hypothesis: two alleles at an autosomal locus. The calculated gene frequencies in the brown hare breed studied are Sdha = 0.712 and Sdhb = 0.288. The distribution of the polymorphism in free-ranging brown hare populations from Austria, Czechoslovakia, Hungary, and Poland is described.

Biochemical and genetic studies on rabbit hemoglobin. II. Electrophoretic polymorphism of the?-chain

A genetic polymorphism of rabbit (Oryctolagus cuniculus) hemoglobin alpha chain is demonstrated by means of acid starch gel electrophoresis. The polymorphism is not detected by isoelectric focusing and may be based upon neutral for neutral amino acid substitutions in accordance with previous findings by means of amino acid sequencing. Segregation analysis was performed on 15 matings with 49 offspring and confirmed the initial genetic hypothesis of three common codominant alleles at an autosomal locus. The calculated gene frequencies in a random sample of 86 unrelated individuals are HBA*1 = 0.73, HBA*2 = 0.22, and HBA*3 = 0.05.

Biochemical and genetic studies on rabbit hemoglobin. I. Electrophoretic polymorphism of theβ chain

A genetic polymorphism of beta-chain rabbit (Oryctolagus cuniculus) hemoglobin is demonstrated by means of acid starch gel electrophoresis. The biochemical evidence presented suggests that a previously reported substitution of a neutral amino acid for a histidine is responsible for the detected genetic variation. Segregation analysis was performed in a sample of 15 matings with 49 offspring and confirmed the genetic hypothesis: two common alleles at an autosomal locus. The calculated gene frequencies in a random sample of 125 individuals are HBB*1 = 0.48 and HBB*2 = 0.52.

Simultaneous Identification of Alpha-L-Fucosidase and Phosphoglucomutase (PGM) Subtyping in Semen Stains

Seminal fluid and stains were analyzed by isoelectric focusing to determine the donor phenotype in the alpha-L-fucosidase (AlFuc) polymorphic system. The enzyme is found in both seminal fluid and spermatazoa. Three common phenotypes exist and can be identified in fluid specimens stored at 4 degrees C for more than a year. Untreated semen specimens display more than eight distinct bands of alpha-L-fucosidase activity with isoelectric points of pH 6.6 and below. Neuraminidase-treated specimens have enhanced banding patterns cathodally with a loss of activity in anodal bands making it easier to phenotype specimens. Semen stains maintained in dehumidified chambers at 25 or 37 degrees C retained activity for at least one month and could be accurately phenotyped. Activity was observed in semen specimens maintained at -20 degrees C in the dried state for a period of one year, whereas a complete loss of activity was observed after two weeks in similar specimens maintained at 25 or 37 degrees C under humid conditions. Of seventy-four semen stains analyzed, two had no apparent activity. Of the remaining seventy-two specimens 56, 32, and 12% were phenotyped as FUC 1-1, FUC 2-1, and FUC 2-2, respectively. Calculated gene frequencies are FUC1 = 0.72 and FUC2 = 0.28. Following analysis of alpha-L-fucosidase, the agarose gel can be chemically developed to reveal the PGM1 subtyping pattern. The ability to phenotype both systems in semen stains significantly improves the ability of the analyst to individualize this type of physical evidence. The probability of discrimination for these two combined systems is approximately 0.89.

Transferrin C subtype frequencies in the Finnish population.

Transferrin (Tf) C subtypes were determined in 419 unrelated adult Finns. The calculated gene frequencies were C1 = 0.738, C2 = 0.097 and C3 = 0.133. The Tf phenotypes in 150 mother-child pairs were in accordance with autosomal codominant inheritance. This material included a rare TfC allele product in three individuals, apparently the same in all cases.