大骨节病患者12号染色体7个STR位点基因频率分析

目的分析大骨节病患者、病区内对照人群和非病区外对照人群12号染色体上7个短串联重复序列（STR）位点的多态性。方法采用荧光标记基因扫描方法，对12号染色体上D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682位点在陕西省永寿县、榆林地区大骨节病区患者和病区内对照人群及咸阳地区非病区外对照人群中的多态性进行分析，计算相应人群中7个位点的基因频率、基因型频率，并对各组间基因频率进行X^2检验。结果D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682位点在大骨节病患者中分别检出4、7、7、8、5、5和7个等位基因，5、12、13、11、10、9和13个基因型；在病区内对照人群中分别检出4、9、7、6、6、6和8个等位基因，5、10、12、14、12、9和13个基因型；在非病区外对照人群中分别检出7、9、7、7、5、8和11个等位基因，9、16、17、16、12、15和20个基因型；各组间基因频率进行比较，在D12S367位点和D12S1638位点，患者与病区内对照（D12S367：P=0．034；D12S1638：P=0．041）及非病区外对照间（D12S367：P=0．029；D12S1638：P=0．028）均有显著性差异；在D12S1646位点，患者与病区内对照间无差异（P=0．446），但病区人群与非病区外对照间有差异（患者一非病区外对照：P=0．036；病区内对照一非病区外对照：P=0．039）。结论大骨节病患者12号染色体的7个STR位点中D12S367和D12S1638等位基因分布显著不同于病区与非病区正常人。

Analysis on allele frequencies of 7 short tandem repeat loci of Kashing-Beck disease patients on chromosome 12

Objective 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. Methods 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. Results (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, the 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. Conclusion There was significant difference between KBD patients and the controls in the D12S367 and D12S1638 loci.