Carrier Rates of Four Single-gene Disorders in Croatian Bayash Roma

Overview

Journal Genet Test Mol Biomarkers

Specialties Genetics
Molecular Biology

Date 2013 Nov 5

PMID 24180318

Citations 1

Authors

Ana Baresic

Marijana Pericic Salihovic

Affiliations

Soon will be listed here.

Abstract

To assess how specific population history, different migration routes, isolation, and endogamy practices contributed to the distribution of several rare diseases found in specific Roma groups, we conducted a population-based research study of rare disease mutations in Croatian Vlax Roma. We tested a total of 427 subjects from Baranja and Međimurje for the presence of four mutations causing hereditary motor and sensory neuropathy type Lom (HMSNL), GM1 gangliosidosis (GM1), congenital cataracts, facial dysmorphism and neuropathy (CCFDN), and limb girdle muscle dystrophy type 2C (LGMD2C), using the RFLP-PCR method to estimate carrier frequencies. We identified a total of four individuals heterozygous for the mutation causing HMSNL in the Baranja population, with a carrier rate amounting to 1.5%. Carriers for other three mutations causing GM1, CCFDN, and LGMD2C were not found in our sample. The carrier rate for the HMSNL mutation in Baranja is lower than in other Vlax Roma groups. In addition, distinct differences in carrier rates between the Croatian Vlax groups point to different genetic history, despite their belonging to the same Roma migration category and subgroup. The difference in carrier rates is either the result of admixture or the reflection of a greater extent of genetic drift since recent founding, maintained by a high degree of endogamy.

Citing Articles

Characterization of ADME genes variation in Roma and 20 populations worldwide.

Skaric-Juric T, Tomas Z, Zajc Petranovic M, Bozina N, Narancic N, Janicijevic B PLoS One. 2018; 13(11):e0207671.

PMID: 30452466 PMC: 6242375. DOI: 10.1371/journal.pone.0207671.

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