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21-羟化酶基因座的遗传定位:小重组频率的估计

Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies.

作者信息

Aston C E, Sherman S L, Morton N E, Speiser P W, New M I

机构信息

Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York.

出版信息

Am J Hum Genet. 1988 Sep;43(3):304-10.

PMID:3137812
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715389/
Abstract

The locus for 21-hydroxylase (CA21HB) has been mapped to the interval between the HLA-B and HLA-DR loci on chromosome 6. Several methods of estimating genetic distance were used to determine whether CA21HB is closer to HLA-B or HLA-DR based on data collected on 157 families ascertained through a proband with the classical form of 21-hydroxylase deficiency (CA12Hd). The results were inconclusive but serve to highlight the limitations of present methods of estimating genetic distance when recombination frequencies are of the order of .005.

摘要

21-羟化酶(CA21HB)基因座已被定位到6号染色体上HLA - B和HLA - DR基因座之间的区间。基于通过一名患有经典型21-羟化酶缺乏症(CA12Hd)的先证者确定的157个家庭所收集的数据,使用了几种估计遗传距离的方法,以确定CA21HB是更靠近HLA - B还是HLA - DR。结果尚无定论,但当重组频率约为0.005时,这凸显了当前估计遗传距离方法的局限性。

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本文引用的文献

1
Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.利用定性(疾病状态)和定量(血清铁)信息对特发性血色素沉着症进行基因分析。
Am J Hum Genet. 1985 Jul;37(4):700-18.
2
High frequency of nonclassical steroid 21-hydroxylase deficiency.非经典型类固醇21-羟化酶缺乏症的高发病率。
Am J Hum Genet. 1985 Jul;37(4):650-67.
3
Genetic mapping: chromosomes 6-22.基因定位:6号至22号染色体。
Am J Hum Genet. 1982 Sep;34(5):730-42.
4
Combined analysis of genetic segregation and linkage under an oligogenic model.寡基因模型下遗传分离与连锁的联合分析。
Comput Biomed Res. 1984 Oct;17(5):471-80. doi: 10.1016/0010-4809(84)90013-2.
5
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.
6
Gene order and gene distances in the HLA region studied by the haplotype method.
Ann Hum Genet. 1983 Oct;47(4):285-92. doi: 10.1111/j.1469-1809.1983.tb00998.x.
7
Kinship mapping of multilocus systems.
Hum Genet. 1983;64(2):103-4. doi: 10.1007/BF00327102.
8
Recent advances in 21-hydroxylase deficiency.21-羟化酶缺乏症的最新进展
Annu Rev Med. 1984;35:649-63. doi: 10.1146/annurev.me.35.020184.003245.
9
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计:人类连锁研究似然性的高效计算。
Am J Hum Genet. 1974 Sep;26(5):588-97.
10
Report of the Committee on the Genetic Constitution of Chromosomes 5 and 6.
Cytogenet Cell Genet. 1985;40(1-4):128-55. doi: 10.1159/000132172.