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复杂家系中易患胰岛素依赖型糖尿病的基因。

Genes predisposing to IDDM in multiplex families.

作者信息

Field L L

机构信息

Department of Pediatrics, University of Calgary, Canada.

出版信息

Genet Epidemiol. 1989;6(1):101-6. doi: 10.1002/gepi.1370060119.

DOI:10.1002/gepi.1370060119
PMID:2499498
Abstract

Analysis of HLA haplotypes occurring in more than one, only one, or no diabetics in GAW5 multiplex insulin-dependent diabetes mellitus (IDDM) families suggested: 1) DR3, DR4, DRw6, and DRw8 are positively associated, and DR2 is negatively associated, with IDDM; 2) DR4 haplotypes are more diabetogenic than DR3 haplotypes; some DR3 haplotypes lacking B8/B18 are more diabetogenic than those carrying B8/B18; DR3 haplotypes with DR beta TaqI bands [2,5,10/11] are more diabetogenic than those without; DR4 haplotypes that carry DQw3.2 are more diabetogenic than those that do not; some DR2 haplotypes are diabetogenic rather than protective. Analysis of DR3 and DR4 transmission from DR3/X and DR4wX (X not equal to 3,4) healthy parents suggested: 3) no distortion of transmission to healthy children and 4) mothers transmit DR4 (and perhaps DR3) less often than fathers to diabetic children. Analysis of INS, GM, and HLA haplotype sharing in affected sib pairs suggested: 5) random segregation of INS haplotypes and 6) a tendency to increased sharing of GM haplotypes in affected sib pairs who were HLA-identical and DR3/4, compared with pairs who were not.

摘要

对GAW5中多个、仅一个或无糖尿病患者的多重胰岛素依赖型糖尿病(IDDM)家系中出现的HLA单倍型分析表明:1)DR3、DR4、DRw6和DRw8与IDDM呈正相关,而DR2与IDDM呈负相关;2)DR4单倍型比DR3单倍型更具糖尿病致病性;一些缺乏B8/B18的DR3单倍型比携带B8/B18的更具糖尿病致病性;具有DRβTaqI条带[2,5,10/11]的DR3单倍型比没有的更具糖尿病致病性;携带DQw3.2的DR4单倍型比不携带的更具糖尿病致病性;一些DR2单倍型具有糖尿病致病性而非保护性。对来自DR3/X和DR4wX(X不等于3,4)健康父母的DR3和DR4传递分析表明:3)向健康儿童的传递无畸变,以及4)母亲向糖尿病儿童传递DR4(可能还有DR3)的频率低于父亲。对患病同胞对中INS、GM和HLA单倍型共享情况的分析表明:5)INS单倍型随机分离,以及6)与非HLA相同且非DR3/4的患病同胞对相比,HLA相同且为DR3/4的患病同胞对中GM单倍型共享增加的趋势。

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1
Genes predisposing to IDDM in multiplex families.复杂家系中易患胰岛素依赖型糖尿病的基因。
Genet Epidemiol. 1989;6(1):101-6. doi: 10.1002/gepi.1370060119.
2
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Homozygous parent affected sib pair method for detecting disease predisposing variants: application to insulin dependent diabetes mellitus.用于检测疾病易感变异的纯合子亲本受累同胞对方法:应用于胰岛素依赖型糖尿病
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HLA and insulin gene associations with IDDM.人类白细胞抗原(HLA)及胰岛素基因与胰岛素依赖型糖尿病的关联
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引用本文的文献

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Genetic predisposition to IDDM.胰岛素依赖型糖尿病的遗传易感性。
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2
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).连锁不平衡的传递测试:胰岛素基因区域与胰岛素依赖型糖尿病(IDDM)
Am J Hum Genet. 1993 Mar;52(3):506-16.
3
Genetics of autoimmune endocrine diseases.自身免疫性内分泌疾病的遗传学
Springer Semin Immunopathol. 1993;14(3):239-52. doi: 10.1007/BF00195976.
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Linkage analysis versus association analysis: distinguishing between two models that explain disease-marker associations.连锁分析与关联分析:区分两种解释疾病-标记物关联的模型。
Am J Hum Genet. 1993 Aug;53(2):367-84.
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Investigation of the HLA component involved in rheumatoid arthritis (RA) by using the marker association-segregation chi-square (MASC) method: rejection of the unifying-shared-epitope hypothesis.运用标记关联-分离卡方(MASC)方法对类风湿关节炎(RA)中涉及的人类白细胞抗原(HLA)成分进行研究:统一共享表位假说被否定。
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Mapping disease genes: family-based association studies.定位疾病基因:基于家系的关联研究。
Am J Hum Genet. 1995 Aug;57(2):487-98.
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Analysis of complex human genetic traits: an ordered-notation method and new tests for mode of inheritance.复杂人类遗传性状分析:一种有序标记法及遗传模式新测试
Am J Hum Genet. 1995 Aug;57(2):474-86.
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Identification of susceptibility loci for type 1 (insulin-dependent) diabetes by trans-racial gene mapping.通过跨种族基因定位鉴定1型(胰岛素依赖型)糖尿病的易感基因座。
Diabetologia. 1990 Jul;33(7):387-95. doi: 10.1007/BF00404086.
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T-cell receptor genes and insulin-dependent diabetes mellitus (IDDM): no evidence for linkage from affected sib pairs.T细胞受体基因与胰岛素依赖型糖尿病(IDDM):来自患病同胞对的连锁证据不足。
Am J Hum Genet. 1990 Jul;47(1):45-52.
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Genetic analysis of susceptibility to type 1 diabetes.1型糖尿病易感性的遗传分析。
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