Allele frequency of VNTR locus D1S80 observed in Hb D-Los Angeles carrires.

ABSTRACT

One of our previous studies presented the allele frequencies of D1S80 VNTR locus in province Denizli including the high frequencies of allele 24 and 18. In Denizli province of Turkey, the most common abnormal variant is Hb D-Los Angeles with a frequency of 57.8 % of the total abnormal Hbs. The aim of this study is to identify the allele frequencies of D1S80 VNTR locus in Hb D-Los Angeles carriers in Denizli province of Turkey. We studied unrelated 36 Hb D-Los Angeles carriers residing in Denizli province of Turkey. The size range of the D1S80 VNTR locus PCR products was determined first by agarose gel electrophoresis and then by a capillary electrophoresis system. For all subjects, DNA sequencing was performed. Allele frequency, theta (k) value, and observed and expected heterozygosity were calculated using Arlequin Software version 3.11. The most common alleles were the 24 (32 %), 18 (18.1 %) and 29 (16.7 %) alleles, and frequencies of these alleles were 0.329, 0.186 and 0.171 respectively. Other observed alleles percentages were 33, 2 %. We did not observe alleles 6, 15, 27 and 35, but we observed alleles 20 and 33. Results were in Hardy-Weinberg linkage disequilibrium. Observed heterozygosity was 0.889, and expected heterozygosity was 0.847. Theta (k) value was 4.91 (95 % confidence interval limits). According to our results, we concluded that Hb D-Los Angeles carriers have different allele frequencies in D1S80 VNTR and also have their own D1S80 VNTR locus divergence.