Tetranucleotide Repeat Polymorphism Research Articles

Tri- and tetranucleotide repeat polymorphism in the LIPA gene.

Tri- and tetranucleotide repeat polymorphism in the LIPA gene.

Capillary zone electrophoresis of polymerase chain reaction-amplified DNA fragments in polymer networks: the case of GATT microsatellites in cystic fibrosis.

In cystic fibrosis (CF), the most common mutation, delta F508 (a three-base-pair deletion) accounts for ca. 70% of mutations in the worldwide population. The majority of other mutations (more than 350 reported so far to the Genetic Analysis Consortium) have been detected in single cases, thus rendering quite cumbersome a molecular diagnostic approach for the identification of CF chromosomes. As an alternative, linkage analysis based on intragenic polymorphism can be useful for prenatal diagnosis and CF-carrier detection, provided that the heterozygosity of the allelic forms is very high. For this purpose, DNA microsatellites, consisting of two to epta nucleotide repeat clusters, displaying a high degree of polymorphism, are being increasingly used as markers in linkage studies. Two main allelic forms, one hexameric (111 bp) and one heptameric (115 bp), of a tetranucleotide (GATT) repeat polymorphism, at the junction of intron IVS6a and exon 6b, have been amplified by PCR technology. These two alleles can be separated in a 10-20% T polyacrylamide gradient gel and detected by ethidium bromide staining. As an alternate procedure, these two fragments are efficiently separated by capillary zone electrophoresis in a viscous solution of 6%T linear polyacrylamide and detected by their intrinsic absorbance at 254 nm.

Association and haplotype analysis at the tyrosine hydroxylase locus in a combined German-British sample of manic depressive patients and controls.

Tyrosine hydroxylase (TH) is the key enzyme in the synthesis of catecholamines and may therefore be of aetiological relevance in the development of psychiatric illness. Hipolar affective disorder association studies, with restriction fragment length polymorphisms located in flanking regions of the TH gene, have shown conflicting results. Alleles of a tetranucleotide repeat polymorphism (TH4) located in intron 1 of the gene were tested for association with bipolar affective disorder in a combined German and British sample of 183 bipolar patients and 209 healthy control probands. No differences in TH4 allele frequencies were found in the two groups. A subset of patients and controls was typed with the flanking markers Ty7/BglII and pJ4.7/TaqI and frequencies of two-locus haplotypes were estimated. Linkage disequilibrium was found between TH4-Ty7 and TH4-pJ4.7. Haplotype frequencies did not differ between patients and controls.

Excluding linkage between panic disorder and the gamma‐aminobutyric acid beta 1 receptor locus in five Icelandic pedigrees

The GABAA receptor subunits are candidate genes for panic disorder because the receptor is the site of action for the anxiolytic effects of the benzodiazepines. We tested for linkage between a tetranucleotide repeat polymorphism at the GABAA beta 1 locus, located on chromosome 4p13-p12, and panic disorder defined by DSM-III-R criteria in 5 Icelandic pedigrees. Both a narrow affection status (definite panic disorder and agoraphobia) and a broad one (including probable cases of these disorders) were tested. With the narrow definition, at a recombination fraction of 0.00, the lod scores in the 5 pedigrees ranged from -3.240 to +0.063, the total score across all 5 pedigrees being -8.299. With the broad definition at the same recombination fraction, the individual lod scores ranged from -2.614 to -0.489, with the total being -8.089. Thus, linkage between panic disorder/agoraphobia and the GABAA beta 1 locus in these pedigrees is exceedingly unlikely.

Canine tetranucleotide repeat polymorphism at the VIAS-D10 locus.

Animal GeneticsVolume 24, Issue 4 p. 332-332 Canine tetranucleotide repeat polymorphism at the VIAS-D10 locus C. R. Primmer, C. R. Primmer Victorian Institute of Animal Science, 475 Mickleham Road, Attwood, Victoria 3049, Australia.Search for more papers by this authorM. E. Matthews, M. E. Matthews Victorian Institute of Animal Science, 475 Mickleham Road, Attwood, Victoria 3049, Australia.Search for more papers by this author C. R. Primmer, C. R. Primmer Victorian Institute of Animal Science, 475 Mickleham Road, Attwood, Victoria 3049, Australia.Search for more papers by this authorM. E. Matthews, M. E. Matthews Victorian Institute of Animal Science, 475 Mickleham Road, Attwood, Victoria 3049, Australia.Search for more papers by this author First published: August 1993 https://doi.org/10.1111/j.1365-2052.1993.tb00334.xCitations: 13AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume24, Issue4August 1993Pages 332-332 RelatedInformation

Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene

The myelin basic protein (MBP) gene is a candidate locus for disease susceptibility in familial multiple sclerosis. Amplification of a polymorphic tetranucleotide repeat region immediately 5' to MBP exon 1 demonstrated the presence of eight different alleles among members of 14 multiplex multiple sclerosis families (36 affected individuals). Linkage analysis was performed with autosomal dominant and autosomal recessive models, normal individuals with abnormal magnetic resonance scans being scored as either unknown or affected. Cumulative LOD scores were negative for both models of inheritance. The results do not demonstrate linkage between the MBP gene region and multiple sclerosis.

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics.

ConclusionsThe refined assignment of the INCL locus and the observed strong linkage disequilibrium with one highly informative tetranucleotide repeat polymorphism at 1p32 has created reliable tools for DNA‐based prenatal and carrier diagnosis of INCL in the majority of the families. The observed tendency for homozygosity of one rare allele in Finnish INCL patients suggests a very close physical distance to the INCL gene and provides an excellent starting point for the molecular cloning of the gene. Identification of the gene defect causing this fatal brain disease will reveal the molecular pathogenesis of the disease but also will provide new information of a factor essential for normal postnatal development of cortical neurons.

A Database of Polymorphisms in the von Willebrand Factor Gene and Pseudogene

SummaryNucleotide sequence polymorphisms in the von Willebrand factor (vWF) gene are useful for genetic studies in von Willebrand disease (vWD). This database describes 33 known vWF polymorphisms distributed throughout the vWF gene. DNA sequence information is available for 21 of these sites. The most informative system is a tetranucleotide repeat polymorphism in vWF intron 40. Sixteen of these polymorphisms are within vWF exons, and approximately half of them also alter the encoded amino acid sequence. Many occur close to mutations that cause vWD. The high prevalence of vWF polymorphisms must be considered in the analysis of candidate vWD mutations. In addition to the vWF gene on chromosome 12, there is a partial unprocessed vWF pseudogene on chromosome 22 that corresponds to vWF exons 23 to 34. Three polymorphisms have been assigned to the vWF pseudogene. Because the vWF gene and pseudogene have diverged only ∼3.1% in DNA sequence, correct assignment of polymorphisms to either locus can be difficult in the region of homology. This problem has been solved in some cases by comparison of the published sequences and predicted restriction maps for the gene and pseudogene.

Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12-q22.

Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12-q22.

Testing deficiency paternity cases with a Y-linked tetranucleotide repeat polymorphism.

Because a son's genotype at a Y-linked locus uniquely specifies his father's genotype at that locus irrespective of the maternal contribution, Y-linked polymorphisms show increased exclusion power over autosomal polymorphisms in paternity cases involving a male child. This advantage is even more obvious when the alleged father is deceased or otherwise unavailable for testing. In this situation, any individual connected by patrilineage to the alleged father may be tested in his place. The usefulness of the Y-linked tetranucleotide repeat locus Y-27H39 in deficiency cases was evaluated in a set of 41 families that had a deceased alleged father and that had been tested at GENE/MG with multilocal and unilocal DNA fingerprinting probes. In sixteen of these cases the proband (child tested) was male and there were male relatives. In the thirteen cases in which paternity was included, Y-27H39 would contribute significantly to the paternity index. In one of three cases in which there was exclusion by fingerprinting probes there was also exclusion by Y-27H39. Thus, Y-27H39 is useful in deficiency paternity cases and will be specially valuable in situations where autosomal polymorphisms have limited power, such as when there is only one male living relative of the deceased father. However, our experience is that Y-linked probes can only be applied in approximately 40% of cases.

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: Effect of genotyping errors

A linkage map consisting of 21 dinucleotide repeat polymorphisms, 1 tetranucleotide repeat polymorphism, and 3 RFLPs was constructed for human chromosome 8. The map spanned most of the chromosome length from near pter to q23-q24 on the distal portion of the long arm. The total 186 cM length of the female map was over two times the 84 cM length of the male map. Cytogenetic mapping of the polymorphisms using a panel of hybrids containing rearranged chromosomes was completely consistent with the linkage map. Special effort was made to remove as many genotyping errors, including parental phase errors, as possible. Removal of errors, in agreement with recent theoretical predictions, led to reduction of the total length of the sex-equal map by 10% from 145 to 130 cM.

A further tetranucleotide repeat polymorphism in the vWF gene.

A further tetranucleotide repeat polymorphism in the vWF gene.

Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP).

Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP).

Tetranucleotide repeat polymorphism at the human N-MYC gene (MYCN)

Tetranucleotide repeat polymorphism at the human N-MYC gene (MYCN)

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

We describe a tetranucleotide (GATT) repeat polymorphism in the cystic fibrosis transmembrane conductance regulator gene.

Tetranucleotide repeat polymorphism at the human prostatic acid phosphatase (ACPP) gene

Tetranucleotide repeat polymorphism at the human prostatic acid phosphatase (ACPP) gene Get access Mihael H. Polymeropoulos, Mihael H. Polymeropoulos National Institute of Mental Health Neuroscience Center, St Elizabeths HospitalRoom 131, 2700 Martin Luther King Avenue, Washington, DC 20032, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Hong Xiao, Hong Xiao National Institute of Mental Health Neuroscience Center, St Elizabeths HospitalRoom 131, 2700 Martin Luther King Avenue, Washington, DC 20032, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Denise S. Rath, Denise S. Rath National Institute of Mental Health Neuroscience Center, St Elizabeths HospitalRoom 131, 2700 Martin Luther King Avenue, Washington, DC 20032, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Carl R. Merril Carl R. Merril National Institute of Mental Health Neuroscience Center, St Elizabeths HospitalRoom 131, 2700 Martin Luther King Avenue, Washington, DC 20032, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 19, Issue 17, 11 September 1991, Page 4792, https://doi.org/10.1093/nar/19.17.4792 Published: 11 September 1991

Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH)

Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH)

Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1)

Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1)

Tetranucleotide repeat polymorphism in the apolipoprotein C-lll gene

Journal Article Tetranucleotide repeat polymorphism in the apolipoprotein C-lll gene Get access Giovanni Zuliani, Giovanni Zuliani Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines BoulevardDallas, TX 75235, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Helen H. Hobbs Helen H. Hobbs Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines BoulevardDallas, TX 75235, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 18, Issue 14, 25 July 1990, Page 4299, https://doi.org/10.1093/nar/18.14.4299-a Published: 25 July 1990