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囊性纤维化的基因同质性。

Genetic homogeneity of cystic fibrosis.

作者信息

Klinger K, Stanislovitis P, Hoffman N, Watkins P C, Schwartz R, Doherty R, Scambler P, Farrall M, Williamson R, Wainwright B

出版信息

Nucleic Acids Res. 1986 Nov 11;14(21):8681-6. doi: 10.1093/nar/14.21.8681.

DOI:10.1093/nar/14.21.8681
PMID:3786136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC311886/
Abstract

We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the met oncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 (Z = 4.92, theta = 0) and between CF and 7C22 (Z = 3.42, theta = 0). Therefore, CF segregates in these large pedigrees in a manner consistent with data from smaller outbred families with respect to the markers on chromosome 7 closest to CF. These data are consistent with locus homogeneity for the defect causing CF in the populations that have been examined to date.

摘要

我们研究了阿米什人/门诺派/哈特派的大家族，这些家族中囊性纤维化（CF）呈分离状态，以研究CF与位于7号染色体上的多态性DNA标记pJ3.11和7C22之间的连锁关系。这些近亲家系由300多名成员组成，其中包括30名患病个体。在这些家族中，先前已表明CF基因座与21号染色体标记D21S5之间以及CF与7号染色体上原癌基因座处的标记之间存在连锁关系。我们现在报告CF与pJ3.11之间的连锁关系（Z = 4.92, θ = 0）以及CF与7C22之间的连锁关系（Z = 3.42, θ = 0）。因此，在这些大家族中，CF的分离方式与来自较小的非近亲家族关于7号染色体上最接近CF的标记的数据一致。这些数据与迄今为止所研究人群中导致CF的缺陷的基因座同质性相符。

相似文献

1
Genetic homogeneity of cystic fibrosis.囊性纤维化的基因同质性。
Nucleic Acids Res. 1986 Nov 11;14(21):8681-6. doi: 10.1093/nar/14.21.8681.
2
A linkage study of cystic fibrosis in extended multigenerational pedigrees.对多代大家庭系谱中囊性纤维化的连锁研究。
Am J Hum Genet. 1986 Dec;39(6):735-43.
3
Studies of cystic fibrosis in Hutterite families by using linked DNA probes.运用连锁DNA探针研究哈特派家族中的囊性纤维化。
Am J Hum Genet. 1987 Dec;41(6):1145-51.
4
Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.支持囊性纤维化与met癌基因之间联系的进一步数据以及met和pJ3.11的单倍型分析。
Am J Hum Genet. 1986 Dec;39(6):713-9.
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Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families.14个家族中囊性纤维化位点与多态性DNA标记的连锁关系。
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Linkage of DNA markers to cystic fibrosis in 26 families.26个家族中DNA标记与囊性纤维化的连锁关系。
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Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion.
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8
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.从七号染色体上分离出另一个与囊性纤维化紧密连锁的匿名信息性DNA序列。
Nucleic Acids Res. 1986 Mar 11;14(5):1951-6. doi: 10.1093/nar/14.5.1951.
9
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.分离出一种与囊性纤维化处于连锁不平衡状态的新DNA标记物，位于J3.11（D7S8）和IRP之间。
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Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7.两个德国囊性纤维化家族中的交叉情况确定了MET、7C22和XV - 2c/CS.7的探针顺序。
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A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.囊性纤维化携带者杂合子优势假说的一项测试。
Am J Hum Genet. 1988 Jun;42(6):808-15.
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Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.哈特派兄弟会中囊性纤维化家族的系谱分析及7号染色体q臂限制性片段长度多态性单倍型分析
Am J Hum Genet. 1989 Mar;44(3):327-37.
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Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis.对患有囊性纤维化的阿米什、门诺和哈特派家庭进行基因检测的态度。
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本文引用的文献

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On the Incidence of Cystic Fibrosis of the Pancreas.胰腺囊性纤维化的发病率
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Hum Genet. 1983;65(2):94-8. doi: 10.1007/BF00286641.
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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
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Am J Hum Genet. 1968 Mar;20(2):157-69.
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The human met oncogene is related to the tyrosine kinase oncogenes.人类原癌基因与酪氨酸激酶原癌基因相关。
Nature. 1985;318(6044):385-8. doi: 10.1038/318385a0.
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Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.意大利囊性纤维化的发病率、遗传异质性及分离分析
Am J Hum Genet. 1985 Mar;37(2):338-49.
8
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.从七号染色体上分离出另一个与囊性纤维化紧密连锁的匿名信息性DNA序列。
Nucleic Acids Res. 1986 Mar 11;14(5):1951-6. doi: 10.1093/nar/14.5.1951.
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Report of the Committee on Methods of Linkage Analysis and Reporting.连锁分析与报告方法委员会报告
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10
Localization of cystic fibrosis locus to human chromosome 7cen-q22.囊性纤维化基因座定位于人类染色体7cen-q22。
Nature. 1985;318(6044):384-5. doi: 10.1038/318384a0.

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