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1
DNA markers near the cystic fibrosis locus: further analysis of the British population.囊性纤维化基因座附近的DNA标记：对英国人群的进一步分析。
J Med Genet. 1990 Jan;27(1):39-41. doi: 10.1136/jmg.27.1.39.
2
[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling].[携带囊性纤维化基因的112种单倍型分析。在遗传咨询中的应用]
J Genet Hum. 1989 Jun;37(2):133-40.
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Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.对北美黑人和白人家庭中与囊性纤维化基因座相关的DNA多态性单倍型的分析支持囊性纤维化基因存在多种突变。
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Cystic fibrosis DNA markers in Alabama blacks.阿拉巴马州黑人的囊性纤维化DNA标记
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Cystic fibrosis: diagnostic testing and the search for the gene.囊性纤维化：诊断检测与基因探寻
Clin Chem. 1989 Jul;35(7 Suppl):B17-20.
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[Approaching the gene of mucoviscidosis. New data].[走近黏液黏稠症基因。新数据]
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[Analysis of the spectra of mutations and polymorphic loci of cystic fibrosis transmembrane conductance regulator in the population of Bashkortostan].[巴什基尔斯坦人群中囊性纤维化跨膜传导调节因子的突变和多态性位点谱分析]
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Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus.在囊性纤维化基因座附近用pMP6d - 9/MspI限制性片段长度多态性检测一种罕见等位基因。
Hum Genet. 1989 Oct;83(3):305-6. doi: 10.1007/BF00285181.
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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.
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Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland.
Hum Genet. 1989 Nov;83(4):391-4. doi: 10.1007/BF00291387.

引用本文的文献

1
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).欧洲主要囊性纤维化（CF）突变及其相关单倍型的分布梯度。欧洲CF遗传学工作组（EWGCFG）。
Hum Genet. 1990 Sep;85(4):436-45. doi: 10.1007/BF02428304.

本文引用的文献

1
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.
2
A closely linked genetic marker for cystic fibrosis.一种与囊性纤维化紧密连锁的遗传标记。
Nature. 1985;318(6044):382-4. doi: 10.1038/318382a0.
3
Regional mapping of six cloned DNA sequences on human chromosome 7.人类7号染色体上六个克隆DNA序列的区域定位。
Am J Hum Genet. 1986 Mar;38(3):280-7.
4
Unusual segregation of cystic fibrosis allele to males.囊性纤维化等位基因向男性的异常分离。
Nature. 1988 May 19;333(6170):215. doi: 10.1038/333215a0.
5
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.
6
Linkage disequilibrium, cystic fibrosis, and genetic counseling.连锁不平衡、囊性纤维化与遗传咨询。
Am J Hum Genet. 1989 Mar;44(3):319-26.
7
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families.55个德国家庭中囊性纤维化基因座与两个DNA标记XV2c和KM19的等位基因关联。
Hum Genet. 1988 Sep;80(1):78-80. doi: 10.1007/BF00451461.
8
Cystic fibrosis typing with DNA probes: experience of a screening laboratory.使用DNA探针进行囊性纤维化分型：一家筛查实验室的经验。
Hum Genet. 1988 May;79(1):76-9. doi: 10.1007/BF00291715.
9
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.囊性纤维化的多态性和连锁不平衡模式。
Genomics. 1987 Nov;1(3):257-63. doi: 10.1016/0888-7543(87)90052-8.
10
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.通过选择无甲基化岛分离出的囊性纤维化位点的一个候选基因。
Nature. 1987;326(6116):840-5. doi: 10.1038/326840a0.

囊性纤维化基因座附近的DNA标记：对英国人群的进一步分析。

DNA markers near the cystic fibrosis locus: further analysis of the British population.

作者信息

Harris A

机构信息

Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London.

出版信息

J Med Genet. 1990 Jan;27(1):39-41. doi: 10.1136/jmg.27.1.39.

DOI:10.1136/jmg.27.1.39
PMID:2308154
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016878/
Abstract

Genetic analysis of the CF locus in the British Caucasian population has been extended using six DNA probes detecting nine polymorphic loci. Data are presented on (1) diagnostic usefulness of probes, and (2) allele frequencies for each probe in this population. For the probes pXV2C and KM19 (those closest to the CF locus) allele frequencies are further subdivided into male and female derived chromosomes 7. The allele frequencies for both probes on non-CF bearing chromosomes 7, but not on CF carrying chromosomes 7, are substantially different in males and females. Combined haplotypes for pXV2C and KM19 show that, as has been observed in other northern European populations, almost 90% of CF chromosomes in this population carry the pXV2C/KM19, 1/2 (2.1 kb/6.6 kb) haplo-type.

摘要

利用检测9个多态位点的6种DNA探针，对英国白种人群中的囊性纤维化（CF）基因座进行了基因分析扩展研究。本文给出了以下两方面的数据：（1）探针的诊断效用；（2）该人群中各探针的等位基因频率。对于探针pXV2C和KM19（最靠近CF基因座的探针），等位基因频率进一步细分为源自男性和女性的7号染色体。在非携带CF的7号染色体上，这两种探针的等位基因频率在男性和女性中存在显著差异，但在携带CF的7号染色体上则不然。pXV2C和KM19的联合单倍型显示，正如在其他北欧人群中所观察到的那样，该人群中近90%的CF染色体携带pXV2C/KM19，1/2（2.1 kb/6.6 kb）单倍型。