新疆维吾尔族62个2型糖尿病家系的遗传特性分析  

Genetic pattern and genetic heterogeneity of type 2 diabetes mellitus in 62 Uygur families from Xinjiang Uygur Autonomous Region

作　　者：樊勇[1] 谢自敬[1] 胡尔西达[1] 木合塔尔[1] 阿地力[1] 木尼热[1] 

机构地区：[1]新疆医科大学一附院内分泌科,新疆维吾尔自治区乌鲁木齐市830054

出　　处：《中国组织工程研究与临床康复》2007年第39期7721-7724,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

摘　　要：目的:分析新疆维吾尔族2型糖尿病的遗传方式及遗传异质性。方法:调查于2003-04/08在新疆和田地区和喀什市完成。以新疆62个维吾尔族2型糖尿病家系为样本,先证者(家系中第1个被确诊为2型糖尿病者)62人,其1级亲和2级亲共703人(其中患糖尿病者154人);合计进入统计的共765人,患糖尿病者共216人,调查对象均知情同意。经培训合格后填写统一的调查问卷,测量一般人体指标,并进行血脂测定。采用PPAP统计软件和Penrose’s法分析其遗传方式;应用PPAP分析软件和SPSS13.0统计软件对62个2型糖尿病家系中糖尿病患者的年龄、腰围、体质量指数、血压、血脂等指标进行遗传异质性分析。结果:765名调查对象全部进入结果分析,无脱落。①2型糖尿病家系一级亲的遗传度为0.578±0.082,二级亲的遗传度为0.032±0.236,遗传度随亲缘系数降低而减小。②无论男女,糖尿病家系的患病率观察值最接近多基因遗传模式的理论值,因此其遗传方式最接近多基因遗传模式。③体质量指数、血压、总胆固醇和三酰甘油含量在2型糖尿病家系间差异具有显著性意义(χ2=88.320￣97.881,P<0.05),而年龄、腰围、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇含量在家系间差异无显著性意义(P>0.05)。④除发病年龄和血压在先证者与亲属间不存在遗传异质性外(P>0.05),其余各项指标均表现出遗传异质性(χ2=4.3018￣11.9975,P<0.05￣0.01)。结论:新疆维吾尔族2型糖尿病的遗传属于多基因遗传,其遗传度随着亲缘系数的降低而减小;维吾尔族2型糖尿病家系中体质量指数、腰围及血脂在糖尿病的遗传上可能存在着异质性。AIM： To analyze the genetic pattern and genetic heterogeneity of type 2 diabetes mellitus （DM） of Uygur in Xinjiang. METHODS： The experiment was accomplished in the Hetian area and Kashi city. We chose 62 Uygur type 2 DM families, including 62 probands （the first one diagnosed as DM in the family） and 703 relatives Of the first and second degrees （154 DM patients）. Totally 765 subjects and 216 DM patients were involved in statistical analysis, with their informed consents. After the qualified training, the subjects were investigated by questionnaires and measured for plasm lipid level. PPAP statistical software and Penrose＇s method were applied to the genetic pattern; PPAP analysis software and SPSS 13.0 statistic software were used to analyze the genetic heterogeneity about age, waistline, body mass index, blood pressure and plasm lipid. RESULTS： All 765 subjects entered the result analysis without any drop. ①The heritability of Uygur familial type 2 DM was 0.578±0.082 in the first-degree relatives and 0.032±0.236 in the second-degree relatives. With the down of the degree relative, the heritabUity was decreased. ②The genetic pattern of Uygur familial type 2 DM was multifactorial inheritance, no matter men or women. ③There were significant difference in body mass index, blood pressure, total cholesterol and triglyceride among type 2 diabetic families （Х^2=88.320-97.881, P 〈 0.05）. In addition, age, waistline, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol were not significantly different （P 〉 0.05）.④ Except the age of onset and blood pressure （P 〉 0.05）, other indexes had genetic heterogeneity between proband and relatives （Х^2=88.320-97.881, P 〈 0.05）. CONCLUSION： The genetic pattern of Uygur familial type 2 DM is multifactorial inheritance. With the down of the degree relative, the heritability is also decreased; Body mass index, blood pressure and waistline probably have genetic heterogeneity among Uygur type 2 DM famili

关 键 词：维吾尔族 糖尿病 2型 遗传异质性 遗传方式 

分 类 号：R587.1[医药卫生—内分泌]