中国北方汉族人群Ⅱ型糖尿病家系1号染色体易感基因位点定位的确证
중국북방한족인군Ⅱ형당뇨병가계1호염색체역감기인위점정위적학증
Confirmation of susceptibility gene loci on chromosome 1 in Northern China Han families with type 2 diabetes
  • 万方数据
    中华医学杂志(英文版) 중화의학잡지(영문판)
    CHINESE MEDICAL JOURNAL
    2001年 8期 876-878 ,共3页

    杜玮南%孙红霞%Xiong MM%左瑾%方福德%Wang Hong%孙琦%强伯勤%沈岩%Yao ZJ%顾军%黄薇%陈竺%华秀峰%高伟

    두위남%손홍하%Xiong MM%좌근%방복덕%Wang Hong%손기%강백근%침암%Yao ZJ%고군%황미%진축%화수봉%고위

    2型糖尿病%微卫星位点%基因组扫描%易感基因%基因定位 2型糖尿病%微衛星位點%基因組掃描%易感基因%基因定位
    2형당뇨병%미위성위점%기인조소묘%역감기인%기인정위
    type 2 diabetes%microsatellte markers%genome screening%susceptibility genes%gene mapping
    目的为了证实本课题组在以前的研究所得到的中国北方汉族Ⅱ型糖尿病相关易感基因的定位结果，我们在定位区域内选用了新的微卫星位点，并扩大了标本量，进行一轮新的分析。 方法运用基因组扫描的方法，经多重PCR、电泳、GeneScan及Genotyper分析获取位点信息，最后经参数及非参数连锁分析，得到相关的P值、NPL值（Z值）。 结果实验共扫描了5个区域34个位点，产生了约12000个基因型，分析结果显示，其中的8个位点的P值低于0.05，Z值最大为2.17，它们分布于3个区域，尤其是第一个区域（1p36.3-1p36.23），其每一个位点的P值都低于0.05，前后分布于一个长达16.9cM的范围内，另外4个区域中的2个也得到了阳性结果，但另2个未能重复出来。 结论实验证实了全基因组扫描所获得的结果。尤其是，我们发现在所研究的1p末端区域，所有位点都呈阳性，且分布于一个很宽的范围内，很可能意味着该区域蛰伏着多个糖尿病易感基因。
    목적위료증실본과제조재이전적연구소득도적중국북방한족Ⅱ형당뇨병상관역감기인적정위결과，아문재정위구역내선용료신적미위성위점，병확대료표본량，진행일륜신적분석。 방법운용기인조소묘적방법，경다중PCR、전영、GeneScan급Genotyper분석획취위점신식，최후경삼수급비삼수련쇄분석，득도상관적P치、NPL치（Z치）。 결과실험공소묘료5개구역34개위점，산생료약12000개기인형，분석결과현시，기중적8개위점적P치저우0.05，Z치최대위2.17，타문분포우3개구역，우기시제일개구역（1p36.3-1p36.23），기매일개위점적P치도저우0.05，전후분포우일개장체16.9cM적범위내，령외4개구역중적2개야득도료양성결과，단령2개미능중복출래。 결론실험증실료전기인조소묘소획득적결과。우기시，아문발현재소연구적1p말단구역，소유위점도정양성，차분포우일개흔관적범위내，흔가능의미착해구역칩복착다개당뇨병역감기인。
    Objective　To confirm previous effort to identify type 2 diabetes susceptibility genes in a Northern Chinese population by conducting a new genome scan with both an increased number of type 2 diabetes families and a new set of microsatellite markers within the previously localized regions. Methods　A genome scan method was applied. After multiplexed PCR, electrophoreses, genescan and genotyping analysis, we obtained size information for all loci , and then a further study was done by both parametric and non-parametric linkage analysis to investigate the P values and Z values of these loci. Results　We surveyed 34 microsatellite markers which distributed within 5 regions along chromosome 1, and a total of 12?000 genotypes were screened. Evidence of linkage with diabetes was identified for 8 of the 34 loci. All P values of the 8 loci were lower than 0.05, and the highest Z value was 2.17. A very interesting finding is that all 5 markers at the p- terminal 1p36.3-1p36.23 region, spanning a long range of 16.9?cM, were identified to have a low P value of less than 0.05, which suggests that this region may contain multiple susceptibility genes. Regions 4 and 5 also confirmed the previous findings, and we narrowed these two regions to a 2.7?cM and 2.5?cM regions, respectively. Conclusions　We further confirmed the results gained in the previous genome-wide scan using an increased number of NIDDM families and a new set of microsatellite markers lying within the initially localized regions. The fact that all 5 loci at the p- terminal region displayed a low P value of less than 0.05 suggests that more than 1 susceptibility gene may reside in this region.
    원문보기 원문다운로드 사이트로이동
저자의 최근 논문