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本文引用的文献

1
A review of theoretical aspects of HLA and disease associations.人类白细胞抗原(HLA)与疾病关联的理论方面综述。
Theor Popul Biol. 1981 Oct;20(2):168-208. doi: 10.1016/0040-5809(81)90009-5.
2
Evidence for recessive and against dominant inheritance at the HLA-"linked" locus in coeliac disease.乳糜泻中HLA“连锁”位点隐性遗传及非显性遗传的证据。
Am J Hum Genet. 1982 Mar;34(2):263-77.
3
HLA genotype distribution and genetic models of insulin-dependent diabetes mellitus.胰岛素依赖型糖尿病的HLA基因型分布及遗传模式
Ann Hum Genet. 1981 Jul;45(3):293-8. doi: 10.1111/j.1469-1809.1981.tb00340.x.
4
Gene dosage and suceptibility to insulin-dependent diabetes.基因剂量与胰岛素依赖型糖尿病易感性
Ann Hum Genet. 1980 Oct;44(2):135-50. doi: 10.1111/j.1469-1809.1980.tb00954.x.
5
Investigation of the mode of inheritance of the HLA associated diseases by the method of antigen genotype frequencies among diseased individuals.通过患病个体中抗原基因型频率的方法研究HLA相关疾病的遗传模式。
Tissue Antigens. 1983 Feb;21(2):81-104. doi: 10.1111/j.1399-0039.1983.tb00377.x.
6
A sib-pair strategy for the use of restriction fragment length polymorphisms to study the mode of transmission of type II diabetes.一种利用限制性片段长度多态性来研究II型糖尿病遗传方式的同胞对策略。
Am J Hum Genet. 1983 Jan;35(1):34-48.
7
Restriction fragment length polymorphism of the insulin gene in diabetes mellitus.糖尿病中胰岛素基因的限制性片段长度多态性
Diabetes. 1982 Mar;31(3):275-7. doi: 10.2337/diab.31.3.275.
8
Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes.人类胰岛素基因5'侧翼区的多态性:非胰岛素依赖型糖尿病的一种遗传标记。
N Engl J Med. 1983 Jan 13;308(2):65-71. doi: 10.1056/NEJM198301133080202.
9
Polymorphic DNA region adjacent to the 5' end of the human insulin gene.人类胰岛素基因5'端相邻的多态性DNA区域。
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63. doi: 10.1073/pnas.78.9.5759.
10
Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes.人类胰岛素基因5'侧翼区域的多态性及其与2型糖尿病的可能关系。
Science. 1981 Sep 4;213(4512):1117-20. doi: 10.1126/science.6267694.

非胰岛素依赖型糖尿病(NIDDM)患者中一种限制性片段长度多态性的基因型分布。

The genotypic distribution among non-insulin-dependent diabetes mellitus (NIDDM) patients of a restriction fragment length polymorphism.

作者信息

Thomson G

出版信息

Am J Hum Genet. 1984 Mar;36(2):466-70.

PMID:6324582
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684425/
Abstract

The genotypic distribution among patients of a marker allele, or restriction fragment length polymorphism (RFLP), can be used to determine the mode of inheritance of a disease-predisposing gene, if the association of the marker with the disease is sufficiently high. In the case of noninsulin-dependent diabetes mellitus (NIDDM), the RFLP in the 5'-flanking region of the human insulin gene does not allow discrimination between dominant and recessive modes of inheritance, or between any intermediate model. Also, it is demonstrated, in general, that the observation of a higher odds ratio for individuals with two copies of a marker allele than for individuals with at least one copy does not in itself imply a gene-dosage model.

摘要

如果一个标记等位基因或限制性片段长度多态性(RFLP)在患者中的基因型分布与疾病的关联足够高,那么它可用于确定疾病易感基因的遗传模式。在非胰岛素依赖型糖尿病(NIDDM)的情况下,人类胰岛素基因5'侧翼区域的RFLP无法区分显性和隐性遗传模式,也无法区分任何中间模式。此外,一般来说,观察到具有两个标记等位基因拷贝的个体比具有至少一个拷贝的个体具有更高的优势比,这本身并不意味着基因剂量模型。