单倍型同胞对在HLA连锁疾病易感性基因特征描述中的应用。
The utility of simplex sibships in the characterization of HLA-linked disease susceptibility genes.
作者信息
Sharp R M, Templeton J W
出版信息
Am J Hum Genet. 1984 Jul;36(4):823-35.
Abstract
We demonstrate, by plotting the deviations from expected ratios of identity by descent (IBD) scores of sibling pairs having only one affected individual, that simplex pairs can, under certain constraints, provide a rich source of information concerning linkage relationships of a disease susceptibility gene. In addition, two statistical tests of significance are presented, one for a fixed sample size and a second for a sequential sampling approach.
摘要
通过绘制仅有一个患病个体的同胞对的亲缘系数（IBD）得分与预期比例的偏差，我们证明，在一定限制条件下，单患病同胞对可为疾病易感基因的连锁关系提供丰富的信息来源。此外，还提出了两种显著性统计检验方法，一种用于固定样本量，另一种用于序贯抽样方法。
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本文引用的文献
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The detection of the genetic carriers of hereditary disease.遗传性疾病基因携带者的检测
Am J Hum Genet. 1949 Sep;1(1):19-36.
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Familial rheumatoid arthritis: linkage of HLA to disease susceptibility locus in four families where proband presented with juvenile rheumatoid arthritis.家族性类风湿关节炎：在先证者患青少年类风湿关节炎的四个家族中，HLA与疾病易感性位点的连锁关系。
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Disease susceptibility genes--their identification by multiple case family studies.疾病易感性基因——通过多个病例家系研究对其进行鉴定。
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Sibling Method for Detecting HLA-linked genes in disease.用于检测疾病中与HLA连锁基因的同胞法。
Tissue Antigens. 1977 Jan;9(1):31-5. doi: 10.1111/j.1399-0039.1977.tb01076.x.
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The affected sib pair IBD distribution for HLA-linked disease susceptibility genes.与HLA相关的疾病易感性基因的受累同胞对同源染色体片段共享分布情况。
Tissue Antigens. 1978 Aug;12(2):87-93. doi: 10.1111/j.1399-0039.1978.tb01303.x.
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The generalized sib pair IBD distribution: its use in the detection of linkage.广义同胞对同源相同状态分布：其在连锁检测中的应用。
Ann Hum Genet. 1978 Jul;42(1):87-94. doi: 10.1111/j.1469-1809.1978.tb00933.x.
8
A robust method for the detection of linkage in familial disease.一种用于检测家族性疾病中连锁关系的可靠方法。
Am J Hum Genet. 1978 May;30(3):308-21.
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