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对早发性乳腺癌和卵巢癌家族进行连锁分析,使用位于17号染色体长臂上的标记。

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.

作者信息

Spurr N K, Kelsell D P, Black D M, Murday V A, Turner G, Crockford G P, Solomon E, Cartwright R A, Bishop D T

机构信息

Human Genetics Resources Laboratory, Imperial Cancer Research Fund, South Mimms, Potters Bar, Hertsfordshire, England.

出版信息

Am J Hum Genet. 1993 Apr;52(4):777-85.

Abstract

We have conducted linkage analysis in 16 breast cancer families, 13 of which are classified as site-specific breast cancer families and 3 of which are classified as breast-ovary families. Linkage analysis has largely focused on a single extended breast-ovary family. Analysis of all families combined shows significant evidence for linkage to 17q (LOD = 3.63 at theta = .0, for linkage to NME1), confirming the observations of Hall et al. and Narod et al. Many families were consistent with linkage, but their limited size and informativeness precluded confirmation of linkage. A putative recombinant in a breast-ovary family suggests that BRCA1 is distal to D17S250.

摘要

我们对16个乳腺癌家族进行了连锁分析,其中13个被归类为特定部位乳腺癌家族,3个被归类为乳腺-卵巢癌家族。连锁分析主要集中在一个单一的扩展性乳腺-卵巢癌家族。对所有家族进行综合分析显示,有显著证据表明与17q存在连锁关系(在θ = 0时,与NME1连锁的LOD值为3.63),证实了霍尔等人及纳罗德等人的观察结果。许多家族与连锁关系相符,但其规模和信息量有限,无法确认连锁关系。一个乳腺-卵巢癌家族中的一个假定重组体表明,BRCA1位于D17S250的远端。

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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
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Genetic epidemiology of breast cancer in Britain.
Ann Hum Genet. 1991 May;55(2):151-9. doi: 10.1111/j.1469-1809.1991.tb00408.x.

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