Haplotype analysis of two X-chromosome STR clusters in the Pakistani population.
Haplotype analysis of closely associated markers has proven to be a powerful tool in kinship analysis especially when X-chromosome short tandem repeats fail to resolve uncertainty in relationship analysis. Microsatellites located on the X chromosome show stronger linkage disequilibrium compared with autosomal microsatellites; hence, it is necessary to estimate the haplotype frequencies directly from population studies as linkage disequilibrium is population-specific. Here, we describe five markers residing in two clusters; cluster I harboring three STR markers DXS6801-DXS6809-DXS6789 and cluster II harboring two STR markers DXS7424-DXS101. A total of 302 male DNA samples of Pakistani descent were analyzed. Theoretically, 847 and 160 different combinations of haplotypes are possible in clusters I and II, but genotyping identified only 129 and 75 haplotypes, respectively. No evidence of linkage disequilibrium was detected, except for the pair (DXS6801-DXS6789), consistent with results obtained with the cluster I in a German population. Our results demonstrate that 83% haplotypes of cluster I and 65% haplotypes of cluster II show <1% frequency in the Pakistani population. This strongly suggests that haplotypes of these two clusters provide a powerful tool for kinship testing and relationship investigations.
Tariq
Muhammad Akram
MA
National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Lahore, 53700, Pakistan.
Sabir
Muhammad Farooq
MF
Riazuddin
S Amer
SA
Riazuddin
Sheikh
S
D041321:Chromosomes, Human, X; D016172:DNA Fingerprinting; D005819:Genetic Markers; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D010154:Pakistan; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences
D005819:Genetic Markers