Gypsy Family Research Articles

Growth and Nutritional Status in a Marginal Spanish Gypsy Population (5 to 14 Years Old)

Gypsy people are the most poorly considered minority in Spain. Their current circumstances in relation to growth rate and trend variation in this country are not well known. The main objective of this paper is to show what happens to a person's growth process in a transitional minority group affected by the process of globalisation. As target population and the articulation of social actions to have an implementation of quality of life is an additional objective. The research team, in collaboration with “Apoyo”, an NGO, made contact with each Gypsy family. The sample comprised 189 boys aged 5 to 14 years. The boys and their families have been rehoused in two large buildings, named “Ruedo” and “Herradura”, in an attempt to accommodate the marginal Gypsy population following the disappearance of their shanties in Madrid. Morphological and physiological variables were considered as well as social situation and nutritional habits. Large family size (5–6 children), smoking and coffee- drinking habits and the intake of less than the internationally recommended number of calories after the age of 8 years endangers the healthy growth of these European Union citizens.

Germany and Its Gypsies: A Post-Auschwitz Ordeal • Shared Sorrows: A Gypsy Family Remembers the Holocaust

Germany and Its Gypsies: A Post-Auschwitz Ordeal • Shared Sorrows: A Gypsy Family Remembers the Holocaust David M. Crowe David M. Crowe Search for other works by this author on: Oxford Academic Google Scholar Holocaust and Genocide Studies, Volume 18, Issue 2, FALL , Pages 296–300, https://doi.org/10.1093/hgs/dch068 Published: 01 August 2004

Shared Sorrows: A Gypsy Family Remembers the Holocaust

Shared Sorrows: A Gypsy Family Remembers the Holocaust

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

Gitel syndrome is an inherited tubular disorder characterized by metabolic alkalosis, hypokalemia, and hypomagnesemia of renal origin and hypocalciuria. The majority of patients with Gitelman syndrome carry inactivating mutations in the SLC12A3 gene encoding the sodium-chloride cotransporter located in the distal convoluted tubule. The purpose of this study was to investigate the underlying mutation in Gitelman syndrome patients of Gypsy race from different geographic origin. Twenty Gypsy patients with clinical and biochemical features of Gitelman syndrome were investigated by mutational analysis. The patients belonged to 12 unrelated Gypsy families living in four different European countries. The parents and unaffected siblings of each patient, as well as the DNA of a population of 200 healthy control patients, were also analyzed. All patients were homozygous for the same splice site mutation, guanine to thymine in the first position of intron 9 of SLC12A3 gene. This mutation was not found in the control population. Parents were heterozygous for the mutation. Despite sharing a common mutation, the clinical manifestations of the syndrome in the patients varied from lack of symptoms in six children to severe growth retardation in four. Demonstration of a novel point mutation within the SLC12A3 gene in our cohort of Gypsy families with Gitelman syndrome is highly suggestive of a founder effect. This finding will facilitate the identification of the genetic defect in further cases of Gitelman syndrome among the Gypsy population. Our study represents the largest series ever published of patients with Gitelman syndrome having the same underlying mutation, and supports the lack of correlation between genotype and clinical phenotype in this disease.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported mutations. These mutations include missense, nonsense, small deletions or insertions, and two splice-site mutations. Ten mutations affect single amino acids, all of which are conserved across vertebrate species. Minor differences in the pattern of disease symptom evolution can be identified. One patient with a more protracted disease progression was a compound heterozygote for a missense mutation and an unidentified mutation. Fifteen CLN6 mutations occur in one or two families only, and families from the same country do not all share the same mutation. Unlike NCLs caused by mutations in CLN1, CLN3, CLN5, and CLN8, there is no major founder mutation in CLN6. However, one mutation (E72X) is significantly more common in patients from Costa Rica than two other mutations present in that same population. In addition, a 1-bp insertion (c.316insC) is associated with families from Pakistan and I154del may be common in Portugal. A group of Roma Gypsy families from the Czech Republic share two disease-associated haplotypes, one of which is also present in a Pakistani family, consistent with the proposed migration of the Roma from the Indian subcontinent 1,000 years ago. All mutations are recorded in the NCL Mutation Database together with their country of origin for use in the development of rapid screening assays to confirm diagnosis and to facilitate carrier testing appropriate to a population.

Divergent long-terminal-repeat retrotransposon families in the genome of Paragonimus westermani.

To gain information on retrotransposons in the genome of Paragonimus westermani, PCR was carried out with degenerate primers, specific to protease and reverse transcriptase (rt) genes of long-terminal-repeat (LTR) retrotransposons. The PCR products were cloned and sequenced, after which 12 different retrotransposon-related sequences were isolated from the trematode genome. These showed various degrees of identity to the polyprotein of divergent retrotransposon families. A phylogenetic analysis demonstrated that these sequences could be classified into three different families of LTR retrotransposons, namely, Xena, Bel, and Gypsy families. Of these, two mRNA transcripts were detected by reverse transcriptase-PCR, showing that these two elements preserved their mobile activities. The genomic distributions of these two sequences were found to be highly repetitive. These results suggest that there are diverse retrotransposons including the ancient Xena family in the genome of P. westermani, which may have been involved in the evolution of the host genome.

Evolutionary patterns of the gypsy and bilbo retrotransposon families in the Drosophila species of the obscura group

We analyse in this paper the evolutionary patterns of two types of Drosophila retrotransposons, gypsy (a virus-like element), and bilbo (a LINE-like element), in host species from the Drosophila and Scaptomyza genus. Phylogenetic analysis of the retrotransposon sequences amplified by PCR, revealed concordance with the phylogeny of the Drosophila host species from the obscura group, which is consistent with vertical transmission during differentiation of the species. However, in the species outside of the obscura group, horizontal transmission can be considered. The amplified sequences that presented intact open reading frames were used in an analysis of the evolutionary constraints on the amino acid sequences. The analysed sequences seem to be functional, and the selective constraints are evidenced, especially when sequences from distant species are compared. Comparison of the evolutionary rates of both retrotransposons in the same species, suggests that bilbo seems to evolve more rapidly than gypsy.

Analysis of genetic diversity in the Oryza officinalis complex

The genetic relationships among 34 accessions of wild rice from Asia, Africa, America and Australia were analysed using RFLP technique. After southern blotting, DNA digestion pattern was hybridised with a highly repetitive DNA sequence of a retrotransposon from a gypsy family of mobile elements. A dendrogram was constructed from RFLP data in which the species clustered according to their genome designation (CC, BB, BBCC and CCDD genomes). Some species did not appear in the same group, for example, O. eichingeri from Africa and Sri Lanka clustered separately from each other. The same situation was observed for the accessions from China of O. officinalis , which cluster together showing a close relationship with O. rhizomatis , and O. eichingeri (both of CC genome). Also, the tetraploid BBCC from India of O. officinalis appears in the same cluster of O. eichingeri and O. punctata (both from Africa) suggesting close phylogenetic relationship with the African genomes BB, CC and BBCC.

Analysis of genetic diversity in the Oryza officinalis complex

The genetic relationships among 34 accessions of wild rice from Asia, Africa, America and Australia were analysed using RFLP technique. After southern blotting, DNA digestion pattern was hybridised with a highly repetitive DNA sequence of a retrotransposon from a gypsy family of mobile elements. A dendrogram was constructed from RFLP data in which the species clustered according to their genome designation (CC, BB, BBCC and CCDD genomes). Some species did not appear in the same group, for example, O. eichingeri from Africa and Sri Lanka clustered separately from each other. The same situation was observed for the accessions from China of O. officinalis , which cluster together showing a close relationship with O. rhizomatis , and O. eichingeri (both of CC genome). Also, the tetraploid BBCC from India of O. officinalis appears in the same cluster of O. eichingeri and O. punctata (both from Africa) suggesting close phylogenetic relationship with the African genomes BB, CC and BBCC.

Symposium on Peripheral Nerve and Neuropathies: a festschrift to celebrate the contribution of P. K. Thomas as Editor of the Journal of Anatomy, 1990–2001

Symposium on Peripheral Nerve and Neuropathies: a festschrift to celebrate the contribution of P. K. Thomas as Editor of the <i>Journal of Anatomy</i>, 1990–2001

Negotiating security of tenure for peri-urban settlement: traveller-gypsies and the planning system in the United Kingdom

Occupiers of informal unauthorised housing in peri-urban areas seek to improve their tenure security and living conditions through conflict and negotiation with the agencies of the state. Traveller-gypsies in the United Kingdom, while numerically few, have often occupied such marginal locations, and engaged with the land use planning system in protracted attempts to regularise and upgrade their owner-occupied self-help sites. This article summarises the contested identity and marginalisation of this group, and the often-inconsistent policy and approaches of central and local government towards it. The issues are explored through five case studies of the planning history of gypsy families and their sites in rural areas of the UK.

Gulliver, a long terminal repeat retrotransposon from the genome of the oriental blood fluke Schistosomajaponicum

We characterized the consensus sequence and structure of a long terminal repeat (LTR) retrotransposon from the genome of the human blood fluke, Schistosoma japonicum, and have named this element, Gulliver. The full length, consensus Gulliver LTR retrotransposon was 4788 bp, and it was flanked at its 5′- and 3′-ends by LTRs of 259 bp. Each LTR included RNA polymerase II promoter sequences, a CAAT signal and a TATA box. Gulliver exhibited features characteristic of a functional LTR retrotransposon including two read through (termination) ORFs encoding retroviral gag and pol proteins of 312 and 1071 amino acid residues, respectively. The gag ORF encoded motifs conserved in nucleic acid binding proteins, while the pol ORF encoded conserved domains of aspartic protease, reverse transcriptase (RT), RNaseH and integrase, in that order, a pol pattern conserved in the gypsy lineage of LTR retrotransposons. Whereas the sequence and structure of Gulliver was similar to that of gypsy, phylogenetic analysis revealed that Gulliver did not group particularly closely with the gypsy family. Rather, its closest relatives were a LTR retrotransposon from Caenorhabditis elegans, mag from Bombyx mori and, to a lesser extent, easel from the salmon Oncorhynchus keta. Dot blot hybridizations indicated that Gulliver was present at between 100 and several thousand copies in the S. japonicum genome, and Southern hybridization analysis suggested its probable presence in the genome of Schistosoma mansoni. Transcripts encoding the RT domain of Gulliver were detected by RT-PCR in larval and adult stages of S. japonicum, indicating that (at least) the RT domain of Gulliver is transcribed. This is the first report of the sequence and structure of an LTR retrotransposon from any schistosome or indeed from any species belonging to the phylum Platyhelminthes.

Afut2, a new family of degenerate gypsy-like retrotransposon from Aspergillus fumigatus.

Four recombinant lambda clones containing non-ribosomal repetitive DNA sequences useful for fingerprinting Aspergillus fumigatus strains contained a new member of the gypsy family of retrotransposons, Afut2. It is 5810 bp in length with long terminal repeats of 245 bp and is defective. All non-ribosomal repetitive DNA sequences isolated so far in A. fumigatus are defective retrotransposons of the gypsy family.

Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.

Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.

A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

During our studies of Romany (Gypsy) families with hereditary motor and sensory neuropathy-Lom, we have identified a large kindred with two independently segregating autosomal recessive neuropathies. The novel disorder, named "hereditary motor and sensory neuropathy-Russe" (HMSNR), presented as a severe disabling form of Charcot-Marie-Tooth disease with prominent sensory loss, moderately reduced motor nerve conduction velocity, and a high threshold for electrical nerve stimulation. A genome scan in two branches of the large kindred detected linkage to the 10q22-q23 region containing the early growth response 2 gene (EGR2), a transcription factor with a key role in peripheral nerve myelination. The results of sequence analysis and the detection of an intragenic polymorphism allowed us to exclude EGR2 as the HMSNR gene. Further analysis done using linkage and recombination mapping refined the position of the HMSNR gene to a small interval on 10q23.2, flanked by markers D10S581 and D10S1742, telomeric to EGR2. In this interval, a conserved seven-marker haplotype is shared by all disease chromosomes, suggesting a single founder mutation. The homozygosity region is contained in bacterial-artificial-chromosome contig 1570 of the Sanger Centre physical map and has an estimated physical size of approximately 500 kb.

Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy - Lom (HMSNL). were found They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17p1.2-12 or point mutations in the Protein zero. Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5 Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #338 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/338.pdf

Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of the molecular basis of GSD Ia was carried out in 12 Czech and Slovak GSD Ia patients from 10 unrelated families. Mutation analysis was performed for the entire coding region of G6Pase gene using DGGE, sequencing and PCR/digestion. With the strategy used, all mutant alleles were identified in this study. Three novel mutations (K76N, V166A and 540del5), six previously described mutations (W77R, R83C, G188R, R295C, Q347X and 158delC) and one known polymorphism (1176T→C) were detected. The most common mutation identified was R83C, accounting for 8 out of 20 (40%) mutant alleles. The K76N mutation was found in a Gypsy family: two siblings with GSD Ia were homozygous for this mutation. These findings expand our knowledge of mutations responsible for glycogen storage disease type Ia. Hum Mutat 16:89, 2000. © 2000 Wiley-Liss, Inc.

Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy

The aim of this work was to assess the hearing impairment in patients with hereditary motor and sensory neuropathy (HMSN). Elevation of pure tone thresholds in the presence of preserved inner ear function as suggested by cochlear microphonics (CM), absent or markedly abnormal brainstem auditory evoked potentials (BAEP), and elevation of speech perception out of proportion to the pure tone loss were found in the patients. From 28 members of a Gypsy family, we examined two siblings aged 31 and 30 years and their nephew aged 20 years, all suffering from HMSN that was associated with auditory neuropathy. All three affected members with difficulty of understanding speech had following investigations: pure tone and speech audiograms, BAEP, cochlear microphonics, and nerve conduction studies (NCV). the older two siblings had a flat 80 dB audiogram, whereas the younger one has flat 20 dB audiogram on the Lt. ear and 30 dB audiogram on the Rt. ear. All had no speech comprehension and no BAEP. Two patients had preserved cochlear microphonics on one ear. Peripheral nerves were electrically not elicitable, however, at the beginning of the disease nerve conduction was slow. in all three affected members with distinct clinical picture of HMSN their hearing impairment was proved to be due to severe auditory neuropathy in the presence of preserved inner ear function.

HLA-DR51 expression failure caused by a two-base deletion at exon 2 of a DRB5 null allele (DRB5*0110N) in a Spanish gypsy family.

Here we describe a new HLA class II null allele at the DRB5 gene. Serologic HLA typing of a Spanish gypsy family rendered the following paternal haplotype: A2-Cblk-B52-Bw4-DR15-DQ5. However, DNA typing demonstrated the presence of a DRB5 gene in the haplotype DRB1*1502-DRB5*0102-DQB1*05031. Complete DRB5 cDNA sequencing revealed a DRB5*0102 allele with a deletion of two nucleotides at exon 2 (239-240) in codon 80. This change generates a frame shift leading to a stop codon at position 86, and could explain the lack of DR51 protein at the cell surface. This is the second DRB5 null allele described together with DRB5*0108N, raising the number of HLA alleles with an expression disorder.

Systematic screening of Anopheles mosquito genomes yields evidence for a major clade of Pao-like retrotransposons

We developed a degenerate PCR procedure to simultaneously amplify products from divergent retrotransposon families within the genomes of Anopheles mosquitoes. The procedure required cloning of multiple PCR products, but more than half of the clones subsequently sequenced were of retrotransposon origin. These included Copia-like and LINE retrotransposons, as well as the first Gypsy-like retrotransposons reported from mosquitoes. Furthermore, some Anopheles retrotransposon sequences showed similarity to the divergent Pao element from the silkmoth Bombyx mori. Phylogenetic analyses provided consistently strong bootstrap support (> 95%) for a major clade of Pao-like retrotransposons, which includes five mosquito sequences and the recently discovered Drosophila retrotransposons BEL and ninja. This appears to represent a new family of Pao-like LTR-retrotransposons distinct from the Copia and Gypsy families.