Dataset Information

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

ABSTRACT: Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified. Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening. Genetic linkage mapping placed the disease locus on 17q, and haplotype analysis revealed a small conserved region of homozygosity. Using radiation hybrid mapping, we have shown that GK1 is located in this region. The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T). The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority.

SUBMITTER: Kalaydjieva L

PROVIDER: S-EPMC1288282 | biostudies-literature | 1999 Nov

REPOSITORIES: biostudies-literature

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A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Kalaydjieva L L Perez-Lezaun A A Angelicheva D D Onengut S S Dye D D Bosshard N U NU Jordanova A A Savov A A Yanakiev P P Kremensky I I Radeva B B Hallmayer J J Markov A A Nedkova V V Tournev I I Aneva L L Gitzelmann R R

American journal of human genetics 19991101 5

Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two diseas ...[more]

PMID: 10521295

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Project description:BackgroundThe incidence of cancer is increasing worldwide, which has led to greater public health focus on primary prevention. Ethnic minorities have lower awareness of cancer risk factors and services, and are at greater risk of cancer mortality. While Gypsies, Roma and Travellers have poor health outcomes even in comparison with other ethnic minorities, little is known about how they view and enact primary prevention. This study takes a participatory approach to explore knowledge and experience of cancer prevention and screening in these communities.MethodsPeer researchers conducted interviews (n = 37) and a focus group (n = 4) with a purposive sample of community members in Wales and South-West England. Participants self-identified as Roma (from Slovakia and Romania) or as Gypsies, Travellers or Showpeople (here described as Gypsy/Travellers). A third of the sample were Roma, and a quarter male, with ages ranging from 18 to 77 years. Data were collected from October 2018 to March 2019.ResultsWomen and men knew that lifestyle factors, such as healthy diet, stopping smoking, drinking less alcohol and using sun protection, contribute to cancer risk reduction. However, there was a widespread lack of confidence in the effectiveness of these measures, particularly in relation to smoking. Traditional cultural beliefs were shared by Roma and Gypsy/Travellers, but did not necessarily affect the behaviour of individuals. Most women participated in cervical and breast screening but few Gypsy/Traveller men would engage with bowel screening, which conflicted with community ideals of stoical masculinity. Roma participants described language barriers to screening, with confusion about differences in timing and eligibility between the UK and Slovakian programmes; this led some to access screening abroad.ConclusionThis study provides new knowledge about how Gypsies, Roma and Travellers keep healthy and prevent disease, giving insights into similarities and differences between ages, sexes and communities. These culturally distinct and high-need ethnic minorities have specific needs in relation to cancer prevention and screening, which merit targeted and acceptable health promotion to reduce health inequalities.

Dataset Information

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Publications

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

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