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中国人2型糖尿病的基因分型和定位

赵进英 王姮 左瑾 李玉秀 孙琦 黄薇 陈竺 蔡有余 方福德

  【摘要】 目的 对中国人2型糖尿病即非胰岛素依赖型糖尿病(NIDDM)家系基因组DNA进行基因分型及基因定位。 方法 采用分布于1~22号染色体及X染色体上的358对荧光标记的微卫星引物,进行多重PCR,PCR扩增产物用聚丙烯酰胺凝胶电泳(PAGE)分离,然后进行电泳图谱及信息收集。应用GenescanTM3.0软件和GenotypeTM2.1软件进行基因分型和基因定位。 结果 在35个家系中共有193个微卫星标志能准确进行基因分型。共得41 495个基因型。经过多点连锁分析和患病同胞对分析,初步确定在1,10,12,18,20号染色体上存在NIDDM相关基因位点。 结论 用全基因组扫描技术可以对中国人2型糖尿病相关基因位点进行基因分型和基因定位。
  【关键词】 2型糖尿病 全基因组扫描 基因分型 基因定位

GENOTYPING AND LOCALIZATION OF GENES ASSOCIATED
2 TYPE DIABETES AMONG CHINESE

Zhao Jinying, Wang Heng*, Zuo Jin, Li Yuxiu*, Sun Qi*, Huang Wei**, Chen Zhu**,
Cai Youyu***, Fang FudeΔ
(The National Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,CAMS,PUMC,Beijing 100005;
* Union Hospital,CAMS,PUMC;** Rui Jin Hospital,Second Medical University of Shanghai;
***Institute of experimental Animal Science,CAMS)

  【Abstract】 Objective To make genotyping for Chinese type 2 diabetes mellitus(NIDDM) pedigreed genome DNA and localizing the loci related genes with NIDDM. Methods 358 pairs of fluorescent labeled microsatellite primers which are distributed on number 1~22 and X chromosomes were used in multiple PCR.The PCR products were separated by polyacrylamide gel electrophoresis (PAGE).Then,scanning of PAGE map and collection of scanning information were completed using GenescanTM 3.0 software.Finally,Genotypes were analyzed by GenotypeTM 2.1 software. Results Total 193 microsatellite markers can be used to make accurately genotyping and total 41495 genotypes were shown among 35 Chinese NIDDM pedigrees.Through multi-point linkage analysis and affected sib-pair analysis,the loci related genes with NIDDM were preliminarily localized on number 1,10,12,18,and 20 chromosomes. Conclusion Genotyping and localization of the loci related genes with Chinese NIDDM can be obtained by using the genome-wide scanning technique.
  【Key words】 Non-insulin dependent dia

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