European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Normal variation, population genetics, genetic epidemiology
Federation.
Khakasia Republic is situated in the centre of South Siberia; the total
population is 542.7 thousand people (the urban population - 336
thousand, the rural population - 206.7 thousand). The most numerous
ethnic groups are Russians (79.5%) and Khakasses (11.1%). The
epidemiological study of congenital malformations among newborns
during 19-years period in Khakasia was performed (1986-2004). Total
spectrum of congenital malformations was registered. The overall rate
of all birth defects was 32.72‰ and varied from 17.22 to 57.98‰ in
some years. The structure of congenital malformations was revealed,
the defects of musculoskeletal, urogenital and cardiovascular system
were more prevalent. The frequency of Down syndrome and multiple
congenital malformations was 1.42 and 2.46‰, respectively.
The load Mendelian pathology with different types of heredity was determined
for each ethnic group, taking into account the territorial distribution:
town, village. In the urban population, the load of autosomal
dominant, autosomal recessive, X-linked pathology were: Russians -
0.51; 0.23 per 1000 individuals respectively, and 0.13 per 1000 male;
Khakasses - 1.22; 0.87; per 1000 individuals respectively. No one case
of X - linked pathology was found in Khakasses. In the rural population,
the load of autosomal dominant, autosomal recessive, X-linked pathology
were: Russians: 0.65; 0.27 per 1000 individuals respectively, and
0.04 per 1000 male; Khakasses - 0.97, 0.76 individuals respectively,
and 0.65 per 1000 male. The load and the prevalence of hereditary
pathology in Khakasia Republic were described for the first time.
P1174. HLA haplotypes associated with HFE C282Y mutation in
São Miguel Island population (Azores)
C. T. Gomes 1 , P. R. Pacheco 1,2 , M. São-Bento 1 , R. Cabral 1,2 , C. C. Branco 1,2 , L.
Mota-Vieira 1,2 ;
1 Mol Genetics & Pathology Unit of the Hospital of Divino Espirito Santo, Ponta
Delgada - Azores, Portugal, 2 Instituto Gulbenkian de Ciência, Oeiras, Portugal.
Hereditary Hemocromatosis (HH) is an autosomal recessive disorder
of the iron metabolism. In the majority of HH cases, the defect is
a single missense mutation, cystein replaced by tyrosine at the 282
position, in the HFE gene. Generally, the C282Y mutation lies within
a celtic ancestral HLA-A*03-B*07 haplotype. In addition, other haplotypes
associated with HH have been found.
Here, we infer the HLA haplotypes associated with the HFE C282Y
mutation in São Miguel Island population. All samples were genotyped
for HLA-A and -B by PCR-SSP and for HFE mutations (C282Y, H63D
and S65C) by PCR-RFLP. Allele and haplotype frequencies were estimated
by Arlequin 3.1 version software.
The sample was composed of 88 individuals divided into two groups:
47 were homozygous and carriers for the HFE C282Y mutation, while
41 had no mutations. The data show that alleles HLA-A*03, HLA-A*29,
HLA-B*37 and HLA-B*45 are in higher frequency in the C282Y patients
and carriers group (p