Carrier rates of four single-gene disorders in Croatian Bayash Roma

Genet Test Mol Biomarkers. 2014 Feb;18(2):83-7. doi: 10.1089/gtmb.2013.0323. Epub 2013 Nov 4.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / congenital*
  • Cataract / ethnology
  • Cataract / genetics
  • Charcot-Marie-Tooth Disease / ethnology
  • Charcot-Marie-Tooth Disease / genetics*
  • Craniofacial Abnormalities / ethnology
  • Craniofacial Abnormalities / genetics*
  • Croatia / ethnology
  • Emigration and Immigration
  • Ethnicity / genetics*
  • Europe / epidemiology
  • Founder Effect
  • Gangliosidosis, GM1 / ethnology
  • Gangliosidosis, GM1 / genetics*
  • Genetic Diseases, Inborn / ethnology
  • Genetic Diseases, Inborn / genetics
  • Heterozygote*
  • Humans
  • Muscular Dystrophies, Limb-Girdle / ethnology
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Nervous System Diseases / ethnology
  • Nervous System Diseases / genetics*
  • Refsum Disease / ethnology
  • Refsum Disease / genetics*

Supplementary concepts

  • Congenital Cataracts, Facial Dysmorphism, And Neuropathy
  • Neuropathy, hereditary motor and sensory, LOM type