Genetic polymorphism of 5 short tandem repeat loci in Hui population in Ningxia area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the genetic polymorphism of 5 short tandem repeat(STR) loci in Hui population in Ningxia area.</p><p><b>METHODS</b>The genetic polymorphisms of five selected STR loci(D11S1984, D14S306, D14S617, D17S1290 and D19S433) in chromosomes 11, 14, 17 and 19 in 144 unrelated individuals in Hui population in Ningxia area were analyzed by PCR amplification, denaturing polyacrylamide gel electrophoresis(PAGE) and silver staining.</p><p><b>RESULTS</b>10, 8, 11, 13 and 8 alleles, 30, 25, 33, 40 and 23 genotypes of the 5 STR loci in Hui population in Ningxia were detected. The measured values of the heterozygosity of the 5 STR loci were 0.8413, 0.8033, 0.8331, 0.8369 and 0.7703; of the polymorphism information content were 0.8217, 0.7746, 0.8121, 0.8174 and 0.7332; of the discrimination power (DP) were 0.9516, 0.9257, 0.9611, 0.9660 and 0.9135. The calculated discrimination power was 0.9999995. The measured values of paternity exclusion were 0.7046, 0.6367, 0.6911, 0.7012 and 0.5801; the calculated paternity exclusion was 0.9958. The genotype distributions were in accordance with Hardy-Weinberg equilibrium.</p><p><b>CONCLUSION</b>The 5 STR loci have better polymorphism in Hui population in the Ningxia area, and thus could serve as useful markers for population genetics research and for individual identification and paternity test in forensic medicine.</p>

Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.</p><p><b>METHODS</b>Polymerase chain reaction-single sequence length polymorphism was used to genotype the family members from 8 families with osteoporosis-pseudoglioma syndrome(OPS) for 14 polymorphic loci within candidate region. The OPS candidate region was narrowed by searching for homozygous region in affected.</p><p><b>RESULTS</b>The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.</p><p><b>CONCLUSION</b>Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.</p>