可变数目串联重复序列/胰岛素基因与Ⅰ型糖尿病的连锁关系：患病同胞对中基因共享增加。
Linkage of the VNTR/insulin-gene and type I diabetes mellitus: increased gene sharing in affected sibling pairs.
作者信息
Owerbach D, Gabbay K H
机构信息
Diabetes Research Center, Baylor College of Medicine, Houston.
出版信息
Am J Hum Genet. 1994 May;54(5):909-12.
Abstract
Ninety-six multiplex type I diabetic families were typed at the 5' flanking region of the insulin gene by using a PCR assay that better resolves the VNTR into multiple alleles. Affected sibling pairs shared 2, 1, and 0 VNTR alleles--identical by descent--at a frequency of .47, .45, and .08, respectively, a ratio that deviated from the expected 1:2:1 ratio (P < .001). These results confirm linkage of the chromosome 11p15.5 region with type I diabetes mellitus susceptibility.
摘要
通过使用一种能更好地将可变数目串联重复序列（VNTR）解析为多个等位基因的聚合酶链反应（PCR）检测法，对96个I型糖尿病多重家庭在胰岛素基因的5'侧翼区域进行分型。受累同胞对分别以0.47、0.45和0.08的频率共享2个、1个和0个通过遗传相同的VNTR等位基因，该比例偏离了预期的1:2:1比例（P < 0.001）。这些结果证实了11号染色体p15.5区域与I型糖尿病易感性之间的连锁关系。
相似文献
1
Linkage of the VNTR/insulin-gene and type I diabetes mellitus: increased gene sharing in affected sibling pairs.可变数目串联重复序列/胰岛素基因与Ⅰ型糖尿病的连锁关系：患病同胞对中基因共享增加。
Am J Hum Genet. 1994 May;54(5):909-12.
2
Insulin gene 5' flanking polymorphism. Length of class 1 alleles in number of repeat units.胰岛素基因5'侧翼多态性。1类等位基因的长度（以重复单位数量计）。
Diabetes. 1995 Nov;44(11):1296-302. doi: 10.2337/diab.44.11.1296.
3
HLA DRB1, DQB1 and insulin promoter VNTR polymorphisms: interactions and the association with adult-onset diabetes mellitus in Czech patients.人类白细胞抗原DRB1、DQB1基因及胰岛素启动子可变数目串联重复序列多态性：捷克患者中的相互作用及其与成人发病型糖尿病的关联
Int J Immunogenet. 2008 Apr;35(2):133-40. doi: 10.1111/j.1744-313X.2008.00749.x. Epub 2008 Feb 11.
4
HLA and susceptibility to insulin-dependent diabetes mellitus on the island of Corsica.科西嘉岛 HLA 与胰岛素依赖型糖尿病易感性
Tissue Antigens. 1994 Aug;44(2):129-33. doi: 10.1111/j.1399-0039.1994.tb02369.x.
5
Restriction fragment polymorphisms of the HLA-DR, HLA-DQ, and insulin gene regions in IDDM: the GAW5 data.胰岛素依赖型糖尿病中HLA - DR、HLA - DQ和胰岛素基因区域的限制性片段多态性：GAW5数据
Genet Epidemiol. 1989;6(1):21-6. doi: 10.1002/gepi.1370060106.
6
Localization of a type I diabetes susceptibility locus to the variable tandem repeat region flanking the insulin gene.将I型糖尿病易感基因座定位到胰岛素基因侧翼的可变串联重复序列区域。
Diabetes. 1993 Dec;42(12):1708-14. doi: 10.2337/diab.42.12.1708.
7
HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus.HLA-DQβ基因与胰岛素依赖型糖尿病的易感性和抗性有关。
Nature. 1987;329(6140):599-604. doi: 10.1038/329599a0.
8
Comparison between HLA-DRB and DQ DNA sequences and classic serological markers as type 1 (insulin-dependent) diabetes mellitus predictive risk markers in the Spanish population.西班牙人群中，HLA-DRB和DQ基因序列与经典血清学标志物作为1型（胰岛素依赖型）糖尿病预测风险标志物的比较。
Diabetologia. 1992 May;35(5):475-81. doi: 10.1007/BF02342447.
9
Identification of genetic susceptibility loci for insulin-dependent diabetes in Sudan.苏丹胰岛素依赖型糖尿病遗传易感性位点的鉴定。
Scand J Immunol Suppl. 1992;11:187-91. doi: 10.1111/j.1365-3083.1992.tb01649.x.
10
Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population.丹麦人群中I型糖尿病与15q26（IDDM3）的连锁关系。
Hum Genet. 1996 Oct;98(4):491-6. doi: 10.1007/s004390050245.
引用本文的文献
1
The insulin polymorphism -23Hph increases the risk for type 1 diabetes mellitus in the Romanian population.胰岛素多态性-23Hph 增加罗马尼亚人群患 1 型糖尿病的风险。
Genet Mol Biol. 2010 Oct;33(4):610-4. doi: 10.1590/S1415-47572010005000074. Epub 2010 Dec 1.
2
IDDM2 and the polymorphism of the human tyrosine hydroxylase (hTH) gene in African Americans with type-1 diabetes.非裔美国1型糖尿病患者中的IDDM2与人酪氨酸羟化酶（hTH）基因多态性
J Natl Med Assoc. 2004 Aug;96(8):1042-6.
3
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families.在对767个多病例家庭的一致性分析中，基因组的七个区域显示出与1型糖尿病存在连锁的证据。
Am J Hum Genet. 2001 Oct;69(4):820-30. doi: 10.1086/323501. Epub 2001 Aug 15.
4
Genetic predisposition to IDDM.胰岛素依赖型糖尿病的遗传易感性。
Clin Rev Allergy Immunol. 2000 Dec;19(3):227-46. doi: 10.1385/CRIAI:19:3:227.
5
本文引用的文献
1
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR.胰岛素依赖型糖尿病的易感性定位到一段跨越胰岛素基因及相关可变数目串联重复序列的4.1 kb DNA片段。
Nat Genet. 1993 Jul;4(3):305-10. doi: 10.1038/ng0793-305.
2
Localization of a type I diabetes susceptibility locus to the variable tandem repeat region flanking the insulin gene.将I型糖尿病易感基因座定位到胰岛素基因侧翼的可变串联重复序列区域。
Diabetes. 1993 Dec;42(12):1708-14. doi: 10.2337/diab.42.12.1708.
3
Type I (insulin-dependent) diabetic multiplex families: mode of genetic transmission.I型（胰岛素依赖型）糖尿病多重家庭：遗传传递模式。
Diabetes. 1980 Dec;29(12):1036-9. doi: 10.2337/diab.29.12.1036.
4
The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.人类胰岛素基因附近的高度多态性区域由简单串联重复序列组成。
Nature. 1982 Jan 7;295(5844):31-5. doi: 10.1038/295031a0.
5
Measuring the genetic contribution of a single locus to a multilocus disease.测量单个基因座对多基因座疾病的遗传贡献。
Clin Genet. 1984 Dec;26(6):529-42. doi: 10.1111/j.1399-0004.1984.tb01100.x.
6
The genetic susceptibility to type 1 (insulin-dependent) diabetes: analysis of the HLA-DR association.1型（胰岛素依赖型）糖尿病的遗传易感性：HLA-DR关联分析。
Diabetologia. 1983 Apr;24(4):224-30. doi: 10.1007/BF00282704.
7
Analysis of a 1963-bp polymorphic region flanking the human insulin gene.对人胰岛素基因侧翼一个1963bp多态性区域的分析。
Gene. 1984 Dec;32(3):475-9. doi: 10.1016/0378-1119(84)90021-0.
8
A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus.人类胰岛素基因附近的一个多态性位点与胰岛素依赖型糖尿病相关。
Diabetes. 1984 Feb;33(2):176-83. doi: 10.2337/diab.33.2.176.
9
HLA-D region beta-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals.HLA-D区域β链DNA内切酶片段在HLA-DR相同的健康个体和胰岛素依赖型糖尿病个体之间存在差异。
Nature. 1983 Jun 30;303(5920):815-7. doi: 10.1038/303815a0.
10
HLA-D and -DR antigens in genetic analysis of insulin dependent diabetes mellitus.HLA-D和-DR抗原在胰岛素依赖型糖尿病的遗传分析中
Diabetologia. 1981 Aug;21(2):108-15. doi: 10.1007/BF00251276.
Zotero 插件