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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):36-9. doi: 10.3760/cma.j.issn.1003-9406.2013.01.009.

[Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].

[Article in Chinese]

Author information

1
Institute of Population Research, Peking University, Beijing, People's Republic of China.

Abstract

OBJECTIVE:

To explore the characteristics of DNA mutations underlying Duchenne muscular dystrophy and provide prenatal diagnosis.

METHODS:

Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were applied for analyzing DMD gene mutations in 388 unrelated Chinese patients and 53 fetuses.

RESULTS:

Respectively, 230 and 43 subjects were found to harbor a deletion (59.28%) or duplication (11.08%). Two deletion hotspots were identified, which have located at exons 45-54 and exons 3-19. Duplications were mainly detected at exons 2-43. Point mutations were identified in 29.64% of patients. Fifty three fetuses were prenatal diagnosed, among which 18 were identified as patients.

CONCLUSION:

Frequencies of DMD gene deletions and duplications in China are similar to global data. Prenatal diagnosis can help to reduce births of DMD patients.

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