Analysis of allele frequencies of 6 short tandem repeat loci on chromosome 12 in patients with Kashing-Beck disease / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the allele frequencies of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) on chromosome 12 among KBD patients and residents in the KBD and non-KBD areas.</p><p><b>METHODS</b>EDTA-blood samples were collected from 146 unrelated Chinese Han individuals in Shaanxi Province including 57 KBD patients, 48 control subjects living in the Kashing-Beck disease(KBD) area and 48 in the non-KBD area. The DNA samples were extracted and amplified by PCR, and the PCR products were analyzed by ABI 3100 Genetic Analyzer.</p><p><b>RESULTS</b>In KBD patients, the allele number for the 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) was 7, 7, 7, 10, 12 and 8, and the genotype number were 13, 12, 9, 17, 19 and 10, respectively; in the residents in KBD area, the allele number was 7, 5, 7, 9, 13 and 9, and the genotype number 12, 10, 12, 19, 16 and 8; in residents in non-KBD area, the allele number was 7, 5, 5, 12, 8 and 9, and the genotype number 17, 16, 8, 22, 14 and 8. There were significant differences in the allele frequencies in the D12S1725 loci between KBD patients and residents living in KBD area (P=0.0119) and the non-KBD area (P=0.0050), but no significant difference in other 5 loci among the 3 groups.</p><p><b>CONCLUSION</b>KBD patients have significantly different allele distribution patterns in the D12S1725 loci from the control subjects.</p>

Analysis on allele frequencies of 7 short tandem repeat loci of Kashing-Beck disease patients on / 中华流行病学杂志

<p><b>OBJECTIVE</b>To analyze the allele frequencies of 7 short tandem repeat (STR) loci (D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682) on chromosome 12 among Kashing-Beck disease (KBD) patients and the control population living in the KBD areas and non-KBD area.</p><p><b>METHODS</b>EDTA-blood specimens were collected from 102 unrelated individuals of Chinese Han population in Shaanxi province including 29 KBD patients,30 controls living in the KBD area and 43 living in the non-KBD area. DNA samples were extracted using the Wizard Genomic DNA purification kit (http://www. Promega. com) and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer.</p><p><b>RESULTS</b>(1) In KBD patients group, the allele number for 7 STR loci were 4,7,7,8,5,5 and 7, the genotype number were 5,12,13,11,10,9 and 13; (2) In the control population living in KBD area, the allele number for 7 STR loci were 4,9,7,6,6,6 and 8,t he genotype number were 5,10,12,14,12,9 and 13;(3) In the control population living in the non-KBD area, the allele number for 7 STR loci were 7,9,7,7,5,8 and 11, the genotype number were 9,16, 17,16,12,15 and 20;(4) Compared with the allele frequencies among three groups, there were significant differences between KBD patients and the controls living in the KBD area (D12S367: P = 0.034; D12S1638: P = 0.041) and the controls living in the non-KBD area (D12S367: P = 0. 029; D12S1638: P= 0 .028) in the D12S367 and D12S1638 loci; (5) There were significant differences among KBD patients (P = 0.036), controls living in the KBD area (P = 0.039) and controls living in the non-KBD area in the D12S1646.</p><p><b>CONCLUSION</b>There was significant difference between KBD patients and the controls in the D12S367 and D12S1638 loci.</p>