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X连锁型肌营养不良症、葡萄糖-6-磷酸脱氢酶（G6PD）变异体、色盲和Xg血型的新连锁数据。

New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups.

作者信息

Zatz M, Itskan S B, Sanger R, Frota-Pessoa O, Saldanha P H

出版信息

J Med Genet. 1974 Dec;11(4):321-7. doi: 10.1136/jmg.11.4.321.

DOI:10.1136/jmg.11.4.321
PMID:4548443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013198/
Abstract

Six families in which Duchenne muscular dystrophy (DMD) and G6PD or deutan colour blindness are segregating are reported. The sum of the lod-scores of these families together with three published previously indicates that the DMD locus is far from the G6PD:deutan cluster. The lod-scores of two families with Becker muscular dystrophy (BMD) informative for the G6PD locus together with those of one family previously studied by Emery, Smith, and Sanger (1969) suggest that the BMD locus could be at a measurable distance from this cluster. The maximum likelihood estimate of the recombination fraction is 0·27 and the 90% confidence limits are 0·17 and 0·40. This difference in linkage estimates for DMD and BMD suggests that the BMD and the DMD genes are located at two different loci on the X chromosome. Five more families with DMD and two with BMD informative for Xg blood groups support the conclusion of other authors that there is no hint of linkage between the loci for Xg and for the X-linked forms of muscular dystrophy.

摘要

本文报告了六个家系，其中杜氏肌营养不良症（DMD）与葡萄糖-6-磷酸脱氢酶（G6PD）或红色盲呈分离状态。这些家系的连锁值总和，加上之前发表的三个家系的数据，表明DMD基因座与G6PD：红色盲基因簇相距甚远。两个对G6PD基因座有信息价值的贝克肌营养不良症（BMD）家系的连锁值，加上Emery、Smith和Sanger（1969年）之前研究的一个家系的连锁值，表明BMD基因座可能与该基因簇有一定距离。重组率的最大似然估计值为0·27，90%置信区间为0·17和0·40。DMD和BMD连锁估计值的这种差异表明，BMD和DMD基因位于X染色体上的两个不同基因座。另外五个有DMD信息且两个有BMD信息的家系，对Xg血型有信息价值，支持了其他作者的结论，即Xg基因座与X连锁型肌营养不良症基因座之间没有连锁迹象。

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本文引用的文献

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The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.弥漫性躯体血管角质瘤（法布里病）的遗传学及其与Xg基因座的连锁关系。
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GLUCOSE-6-PHOSPHATE DEHYDROGENASE, COLOUR VISION AND XG BLOOD GROUPS IN GREECE: LINKAGE AND POPULATION DATA.希腊的葡萄糖-6-磷酸脱氢酶、色觉与XG血型：连锁及群体数据
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Evidence for the absence of detectable linkage between the genes for Duchenne muscular dystrophy and the Xg blood group.杜氏肌营养不良基因与Xg血型基因之间不存在可检测到的连锁关系的证据。
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Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes.美国黑人中葡萄糖-6-磷酸脱氢酶缺乏症基因座与色盲基因座之间的遗传连锁
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[Genetics of myopathy].[肌病的遗传学]
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Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
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[A benign X-chromosomal hereditary muscular dystrophy. I. Examinations of symptom-carriers].[一种良性X染色体遗传性肌营养不良症。I. 症状携带者的检查]
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Distribution and heredity of erythrocyte G6PD activity and electrophoretic variants among different racial groups at São Paulo, Brazil.巴西圣保罗不同种族群体中红细胞葡萄糖-6-磷酸脱氢酶（G6PD）活性及电泳变异体的分布与遗传情况。
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