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人类白细胞抗原与多发性硬化症的遗传:72个家系的连锁分析

HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.

作者信息

Tiwari J L, Hodge S E, Terasaki P I, Spence M A

出版信息

Am J Hum Genet. 1980 Jan;32(1):103-11.

PMID:7361760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685937/
Abstract

Linkage analysis of 72 pedigrees by the maximum-likelihood method provides evidence of linkage between HLA and the hypothesized multiple sclerosis susceptibility gene (MSSG) for both the dominant and recessive models of inheritance and for penetrance values ranging from 5%--65% (or higher). This MSSG, if it exists, is most likely located at 15%--20% recombination units from the HLA complex, probably on the B-D side. The analysis also shows that there is no heterogeneity in the estimates of linkage, and lod scores are not artifically inflated because of the association of multiple sclerosis (MS) with HLA-B7.

摘要

通过最大似然法对72个家系进行连锁分析,结果表明,对于显性和隐性遗传模式以及5% - 65%(或更高)的外显率值,HLA与假定的多发性硬化症易感基因(MSSG)之间存在连锁证据。如果这个MSSG存在,它很可能位于距HLA复合体15% - 20%重组单位处,可能在B - D侧。分析还表明,连锁估计不存在异质性,并且由于多发性硬化症(MS)与HLA - B7的关联,连锁值不会被人为夸大。

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HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.人类白细胞抗原与多发性硬化症的遗传:72个家系的连锁分析
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HLA and disease: predictions for HLA haplotype sharing in families.人类白细胞抗原与疾病:家庭中人类白细胞抗原单倍型共享的预测
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PROBLEMS OF EXPERIMENTAL TRIALS OF THERAPY IN MULTIPLE SCLEROSIS: REPORT BY THE PANEL ON THE EVALUATION OF EXPERIMENTAL TRIALS OF THERAPY IN MULTIPLE SCLEROSIS.多发性硬化症治疗的实验性试验问题:多发性硬化症治疗实验性试验评估小组报告
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TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS.人类遗传学中重组率值的异质性检验
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The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.椭圆形红细胞增多症基因与Rh血型之间连锁关系的检测与评估。
Am J Hum Genet. 1956 Jun;8(2):80-96.
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Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
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Multiple sclerosis in twins and their relatives.双胞胎及其亲属中的多发性硬化症。
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Aspects on classification methods in multiple sclerosis.多发性硬化症分类方法的相关方面。
Acta Neurol Scand Suppl. 1965;13 Pt 2:543-8. doi: 10.1111/j.1600-0404.1965.tb01926.x.
9
Multiple sclerosis: association with HL-A3.多发性硬化症:与HL - A3的关联。
Tissue Antigens. 1972;2(1):1-4. doi: 10.1111/j.1399-0039.1972.tb00111.x.
10
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计:人类连锁研究似然性的高效计算。
Am J Hum Genet. 1974 Sep;26(5):588-97.