南方医科大学学报

南方医科大学学报 ›› 2006, Vol. 26 ›› Issue (04): 414-417.

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大骨节病患者12号染色体6个STR位点基因频率分析

左弘； 郭雄； 康龙丽； 平智广； 张宝弟； 王世捷； 赖江华； 耿冬；   

  1. 西安交通大学环境与疾病基因教育部重点实验室／环境与地方病研究室； 西安交通大学环境与疾病基因教育部重点实验室／环境与地方病研究室 陕西 西安 710061； 陕西 西安 710061；
  • 出版日期:2006-04-20 发布日期:2006-04-20
  • 基金资助:
    国家自然科学基金(30371252)~~

Analysis of allele frequencies of 6 short tandem repeat loci on chromosome 12 in patients with Kashing-Beck disease

ZUO Hong, GUO Xiong, KANG Long-li, PING Zhi-guang, ZHANG Bao-di, WANG Shi-jie, LAI Jiang-hua, GENG Dong Key Laboratory of Environment and Genes Related to Diseases of Ministry of Education, Xi’an Jiaotong University, Xi’an 710061, China   

  1. 西安交通大学环境与疾病基因教育部重点实验室／环境与地方病研究室； 西安交通大学环境与疾病基因教育部重点实验室／环境与地方病研究室 陕西 西安 710061； 陕西 西安 710061；
  • Online:2006-04-20 Published:2006-04-20

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摘要： 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6个短串联重复序列(short tandem repeat,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D12S358、D12S1675、D12S1663、 D12S1697、D12S1725和D12S1613位点在大骨节病区患者和病区内对照及非病区外对照人群中的多态性进行分析。计算相应人群中6个位点的基因频率、基因型频率,并对各组间基因频率进行比较。结果 12号染色体上D12S358、 D12S1675、D12S1663、D12S1697、D12S1725和D12S1613位点在大骨节病患者分别检出7、7、7、10、12和8个等位基因,13、12、9、17、19和10个基因型;在病区内对照人群中分别检出7、5、7、9、13和9个等位基因,12、10、12、19、16和8 个基因型;在非病区外对照人群中分别检出7、5、5、12、8和9个等位基因,17、16、8、22、14和8个基因型;各组间基因频率进行比较,在D12S1725位点,患者与病区内对照(P=-0．0119)及非病区外对照间(P=0．0050)均有显著性差异,而病区正常组及非病区正常组间无差异(P=0．590);其余各位点在三组间均无显著性差异。结论大骨节病患者12号染色体的6个STR位点中D12S1725等位基因分布显著不同于病区与非病区正常人。

Abstract: Objective 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. Methods 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. Results 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. Conclusion KBD patients have significantly different allele distribution patterns in the D12S1725 loci from the control subjects.

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