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对单个人类染色体上多个多态性位点进行分析，以排除与遗传性疾病的连锁关系：囊性纤维化与4号染色体。

The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.

作者信息

Farrall M, Scambler P, North P, Williamson R

出版信息

Am J Hum Genet. 1986 Jan;38(1):75-83.

PMID:3004205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684714/
Abstract

Classical linkage programs analyze the segregation of two markers in informative families. When several markers are available for one human chromosome, pairwise analysis can exclude linkage between each marker and an inherited disease. The identification of restriction fragment length polymorphisms has made many new informative markers, assigned to chromosomes, available. We have adapted the multipoint linkage program MLINK developed by Lathrop et al. in order to exclude linkage between cystic fibrosis and several markers known to be on human chromosome 4. The exclusion obtained is greater than that for a pairwise analysis.

摘要

经典的连锁分析程序分析信息丰富的家系中两个标记的分离情况。当一条人类染色体上有多个标记可用时，成对分析可以排除每个标记与一种遗传病之间的连锁关系。限制片段长度多态性的鉴定使得许多新的信息丰富的标记被定位到染色体上。我们采用了Lathrop等人开发的多点连锁分析程序MLINK，以排除囊性纤维化与已知位于人类4号染色体上的几个标记之间的连锁关系。得到的排除结果比成对分析的结果更显著。

相似文献

1
The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.对单个人类染色体上多个多态性位点进行分析，以排除与遗传性疾病的连锁关系：囊性纤维化与4号染色体。
Am J Hum Genet. 1986 Jan;38(1):75-83.
2
Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis.4号染色体上多态性标记与囊性纤维化之间的连锁研究。
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引用本文的文献

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A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.用于基因排除分析的模型系统：囊性纤维化与19号染色体
J Med Genet. 1986 Oct;23(5):417-20. doi: 10.1136/jmg.23.5.417.
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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.
3
Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
4
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.一种使用多点连锁分析进行基因定位的有效策略：将多发性内分泌腺瘤病2A（MEN2A）基因座排除在13号染色体之外。
Am J Hum Genet. 1987 Apr;40(4):329-37.

本文引用的文献

1
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.椭圆形红细胞增多症基因与Rh血型之间连锁关系的检测与评估。
Am J Hum Genet. 1956 Jun;8(2):80-96.
2
Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
3
The MNSs blood groups of families with chromosome 4 rearrangements.具有4号染色体重排的家族的MNSs血型
Ann Hum Genet. 1981 Feb;45(1):39-47. doi: 10.1111/j.1469-1809.1981.tb00304.x.
4
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.X染色体短臂上一个克隆DNA序列与杜氏肌营养不良症的连锁关系。
Nature. 1982 Nov 4;300(5887):69-71. doi: 10.1038/300069a0.
5
Exclusion mapping illustrated by the MNSs blood group.由MNSs血型所阐释的排除性定位
Ann Hum Genet. 1980 Jul;44(1):61-73. doi: 10.1111/j.1469-1809.1980.tb00946.x.
6
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.
7
Multiple alleles in cystic fibrosis?囊性纤维化中的多个等位基因？
Am J Hum Genet. 1984 Nov;36(6):1398-9.
8
Retraction: No evidence for more than one locus in cystic fibrosis .撤回声明：无证据表明囊性纤维化存在多个基因座。
Am J Hum Genet. 1984 Nov;36(6):1401-2.
9
Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases.多个基因座的突变可能与囊性纤维化有关——基于近亲婚配数据和病例直接计数的证据。
Am J Hum Genet. 1983 Sep;35(5):838-44.
10
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.

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