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Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.

作者信息

Speer M C, Pericak-Vance M A, Yamaoka L H, Koh J, Hung W Y, Gaskell P C, Vance J M, Bartlett R J, Roses A D

机构信息

Division of Neurology, Duke University Medical Center, Durham, North Carolina.

出版信息

Prenat Diagn. 1988 Jul;8(6):427-37. doi: 10.1002/pd.1970080607.

DOI:10.1002/pd.1970080607
PMID:3211845
Abstract

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.

摘要

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引用本文的文献

1
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.杜氏肌营养不良症的产前诊断：前瞻性连锁分析与回顾性肌营养不良蛋白cDNA分析
Am J Hum Genet. 1989 Feb;44(2):270-81.
2
A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.一种用于缺失和携带者状态分析的肌营养不良蛋白基因的TaqI图谱。
J Med Genet. 1992 Jan;29(1):14-9. doi: 10.1136/jmg.29.1.14.