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早发性前列腺癌的易感基因,定位于1号染色体1q42.2 - 43区域。

Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43.

作者信息

Berthon P, Valeri A, Cohen-Akenine A, Drelon E, Paiss T, Wöhr G, Latil A, Millasseau P, Mellah I, Cohen N, Blanché H, Bellané-Chantelot C, Demenais F, Teillac P, Le Duc A, de Petriconi R, Hautmann R, Chumakov I, Bachner L, Maitland N J, Lidereau R, Vogel W, Fournier G, Mangin P, Cussenot O

机构信息

Département d'Urologie, Université Paris VII, Hôpital Saint Louis, Paris, France.

出版信息

Am J Hum Genet. 1998 Jun;62(6):1416-24. doi: 10.1086/301879.

DOI:10.1086/301879
PMID:9585607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1377158/
Abstract

There is genetic predisposition associated with >=10% of all cancer of the prostate (CaP). By means of a genomewide search on a selection of 47 French and German families, parametric and nonparametric linkage (NPL) analysis allowed identification of a locus, on chromosome 1q42.2-43, carrying a putative predisposing gene for CaP (PCaP). The primary localization was confirmed with several markers, by use of three different genetic models. We obtained a maximum two-point LOD score of 2.7 with marker D1S2785. Multipoint parametric and NPL analysis yielded maximum HLOD and NPL scores of 2.2 and 3.1, respectively, with an associated P value of . 001. Homogeneity analysis with multipoint LOD scores gave an estimate of the proportion of families with linkage to this locus of 50%, with a likelihood ratio of 157/1 in favor of heterogeneity. Furthermore, the 9/47 families with early-onset CaP at age <60 years gave multipoint LOD and NPL scores of 3.31 and 3.32, respectively, with P = .001.

摘要

在所有前列腺癌(CaP)病例中,有超过10%与遗传易感性相关。通过对47个法德家族进行全基因组搜索,参数化和非参数化连锁(NPL)分析确定了位于1号染色体1q42.2 - 43区域的一个位点,该位点携带一个假定的前列腺癌(PCaP)易感基因。通过使用三种不同的遗传模型,利用多个标记物证实了该主要定位。标记物D1S2785的两点LOD值最高为2.7。多点参数化分析和NPL分析得到的最高HLOD值和NPL值分别为2.2和3.1,相关P值为0.001。对多点LOD值进行同质性分析,估计与该位点连锁的家族比例为50%,支持异质性的似然比为157/1。此外,在47个家族中,有9个家族在60岁之前出现早发性CaP,其多点LOD值和NPL值分别为3.31和3.32,P = 0.001。

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