Wyniki wyszukiwania

Sortuj według:

Ogranicz wyniki do:

Few associations of candidate genes with nonysyndromic orofacial clefts in the population of Lithuania

100%

Morkuniene A., Steponaviciute D., Utkus A., Kucinskas V.

Journal of Applied Genetics

2007

tom 48

nr 1

89-91

Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (P = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.

Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik

Mutations in the human rhodopsin gene and polymorphisms in peripherin-RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients

63%

Kucinskas V., Payne A. M., Ambrasiene D., Jurgelevicius V., Steponaviciute D., Arciuliene J. V., Daktaraviciene E., Bhattacharya S.

Journal of Applied Genetics

1999

tom 40

nr 1

Ograniczanie wyników

2 Journal of Applied Genetics

2 Kucinskas V.

2 Steponaviciute D.

1 Ambrasiene D.

1 Arciuliene J. V.

1 Bhattacharya S.

1 Daktaraviciene E.

1 Jurgelevicius V.

1 Morkuniene A.

1 Payne A. M.

1 Utkus A.

1 2007

1 1999

Wyniki wyszukiwania

Few associations of candidate genes with nonysyndromic orofacial clefts in the population of Lithuania

Mutations in the human rhodopsin gene and polymorphisms in peripherin-RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients