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HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania.
J Gastrointestin Liver Dis. 2012 Jun; 21(2):177-80.JG

Abstract

BACKGROUND AND AIMS

HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. This study was a first attempt to evaluate the distribution of these HFE gene mutations in the Transylvania region.

METHODS

Two-hundred and twenty-five healthy, unrelated volunteers originating from the Transylvania region, Romania, were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction-Restriction Fragments Length Polymorphism).

RESULTS

For the C282Y mutation, 7 heterozygotes (3.1%) were found, but no homozygous individual. In the case of the H63D mutation, 40 heterozygotes (17.8%) and 4 homozygotes (1.75%) for the mutant allele were evidenced. We found a compound heterozygous genotype (C282Y/H63D) in one individual (0.45%). Thus, the allele frequencies of the C282Y and H63D were 1.75% and 10.9%, respectively. Three individuals (1.3%) were found to harbour the S65C mutation in a heterozygous state, but none in a homozygous state: the allele frequency of the mutant allele was 0.75%.

CONCLUSIONS

The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries: a decreasing gradient from Northern to Southern Europe for the C282Y mutation; high frequency for the H63D mutation, and low frequency for the S65C mutation in most of the countries.

Authors+Show Affiliations

Department of Medical Genetics, University of Medicine and Pharmacy, Cluj-Napoca, Romania. trifa.adrian@umfcluj.roNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22720307

Citation

Trifa, Adrian P., et al. "HFE Gene C282Y, H63D and S65C Mutations Frequency in the Transylvania Region, Romania." Journal of Gastrointestinal and Liver Diseases : JGLD, vol. 21, no. 2, 2012, pp. 177-80.
Trifa AP, Popp RA, Militaru MS, et al. HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania. J Gastrointestin Liver Dis. 2012;21(2):177-80.
Trifa, A. P., Popp, R. A., Militaru, M. S., Farcaş, M. F., Crişan, T. O., Gana, I., Cucuianu, A., & Pop, I. V. (2012). HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania. Journal of Gastrointestinal and Liver Diseases : JGLD, 21(2), 177-80.
Trifa AP, et al. HFE Gene C282Y, H63D and S65C Mutations Frequency in the Transylvania Region, Romania. J Gastrointestin Liver Dis. 2012;21(2):177-80. PubMed PMID: 22720307.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania. AU - Trifa,Adrian P, AU - Popp,Radu A, AU - Militaru,Mariela S, AU - Farcaş,Marius F, AU - Crişan,Tania O, AU - Gana,Ionuţ, AU - Cucuianu,Andrei, AU - Pop,Ioan V, PY - 2012/6/22/entrez PY - 2012/6/22/pubmed PY - 2012/10/30/medline SP - 177 EP - 80 JF - Journal of gastrointestinal and liver diseases : JGLD JO - J Gastrointestin Liver Dis VL - 21 IS - 2 N2 - BACKGROUND AND AIMS: HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. This study was a first attempt to evaluate the distribution of these HFE gene mutations in the Transylvania region. METHODS: Two-hundred and twenty-five healthy, unrelated volunteers originating from the Transylvania region, Romania, were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction-Restriction Fragments Length Polymorphism). RESULTS: For the C282Y mutation, 7 heterozygotes (3.1%) were found, but no homozygous individual. In the case of the H63D mutation, 40 heterozygotes (17.8%) and 4 homozygotes (1.75%) for the mutant allele were evidenced. We found a compound heterozygous genotype (C282Y/H63D) in one individual (0.45%). Thus, the allele frequencies of the C282Y and H63D were 1.75% and 10.9%, respectively. Three individuals (1.3%) were found to harbour the S65C mutation in a heterozygous state, but none in a homozygous state: the allele frequency of the mutant allele was 0.75%. CONCLUSIONS: The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries: a decreasing gradient from Northern to Southern Europe for the C282Y mutation; high frequency for the H63D mutation, and low frequency for the S65C mutation in most of the countries. SN - 1842-1121 UR - https://www.unboundmedicine.com/medline/citation/22720307/HFE_gene_C282Y_H63D_and_S65C_mutations_frequency_in_the_Transylvania_region_Romania_ L2 - https://www.jgld.ro/jgld/index.php/jgld/article/view/2012.2.13 DB - PRIME DP - Unbound Medicine ER -