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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。

Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families.

作者信息

Krawczak M, Konecki D S, Schmidtke J, Dück M, Engel W, Nützenadel W, Trefz F K

机构信息

Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.

出版信息

Hum Genet. 1988 Sep;80(1):78-80. doi: 10.1007/BF00451461.

DOI:10.1007/BF00451461
PMID:2901397
Abstract

Allelic association between cystic fibrosis and two linked markers is demonstrated in a sample of 55 German families. It is shown by example how these observations can be used for genetic risk calculation.

摘要

在55个德国家庭的样本中证实了囊性纤维化与两个连锁标记之间的等位基因关联。通过实例展示了如何将这些观察结果用于遗传风险计算。

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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。
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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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本文引用的文献

1
Nonuniform recombination within the human beta-globin gene cluster.人类β-珠蛋白基因簇内的不均一重组
Am J Hum Genet. 1984 Nov;36(6):1239-58.
2
A locus on chromosome 11p with multiple restriction site polymorphisms.11号染色体短臂上具有多个限制性酶切位点多态性的一个基因座。
Am J Hum Genet. 1984 Nov;36(6):1159-71.
3
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.囊性纤维化与两个紧密连锁的DNA标记的连锁关系:一项合作研究的联合报告
Hum Genet. 2003 Dec;114(1):36-43. doi: 10.1007/s00439-003-1017-2. Epub 2003 Sep 18.
4
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.两个南欧人群中囊性纤维化基因座附近DNA单倍型的连锁不平衡
Hum Genet. 1989 Sep;83(2):175-8. doi: 10.1007/BF00286713.
5
Testing for cystic fibrosis using allelic association.利用等位基因关联检测囊性纤维化
J Med Genet. 1989 Jul;26(7):426-30. doi: 10.1136/jmg.26.7.426.
6
Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis.连锁不平衡数据在囊性纤维化产前诊断中的应用。
Hum Genet. 1989 May;82(2):202. doi: 10.1007/BF00284060.
7
Risks of fetal cystic fibrosis based on linkage disequilibrium data.
Hum Genet. 1989 Aug;83(1):52-4. doi: 10.1007/BF00274147.
8
Cystic fibrosis in Finland: a molecular and genealogical study.芬兰的囊性纤维化:一项分子与谱系研究。
Hum Genet. 1989 Aug;83(1):20-5. doi: 10.1007/BF00274141.
9
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms at two DNA markers, XV-2c and KM. 19, in North African families.在北非家庭中,囊性纤维化与两个DNA标记XV - 2c和KM. 19处的连锁DNA多态性之间的连锁不平衡。
Am J Hum Genet. 1989 Oct;45(4):635-7.
10
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.
Am J Hum Genet. 1986 Dec;39(6):681-93.
4
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.
5
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.
Hum Genet. 1987 Aug;76(4):337-43. doi: 10.1007/BF00272441.
6
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.