ABCD1 Gene Mutations in Chinese Patients with ALD

J Millichap

doi:10.15844/pedneurbriefs-19-8-5

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Degenerative Diseases

ABCD1 Gene Mutations in Chinese Patients with ALD

Author:

J Gordon Millichap

Northwestern University Feinberg School of Medicine, US

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Abstract

Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC.

Keywords: Adrenoleukodystrophy, ABCD1 Mutations, Polymerase Chain Reaction Products

How to Cite: Millichap, J.G., 2005. ABCD1 Gene Mutations in Chinese Patients with ALD. Pediatric Neurology Briefs, 19(8), pp.60–60. DOI: http://doi.org/10.15844/pedneurbriefs-19-8-5

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Published on 01 Aug 2005

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CC BY 4.0

Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC. Eight of 10 screened sisters and cousins were carriers. Mutational heterogeneity is prevalent in Chinese patients with ALD, a finding consistent with other populations. Mutational analysis of ABCVD1 gene is of value in counseling of ALD families. [1]

COMMENT. Direct sequencing of polymerase chain reaction products is a simple and efficient method for diagnostic mutational analysis of the ABCD1 gene found in the majority of X-linked ALD patients. X-linked ALD is transmitted maternally, and analysis of the ABCD1 gene in women with an affected family member can determine the risk of transmission to offspring, of help in genetic counseling.

References

Pan, H Xiong, H Wu, Y Zhang, YH Bao, XH Jiang, YW et al. (2005). ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol Aug 200533(2): 114–120, DOI: https://doi.org/10.1016/j.pediatrneurol.2005.03.006 [PubMed]

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[CIT0001] Pan, H Xiong, H Wu, Y Zhang, YH Bao, XH Jiang, YW et al. (2005). ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol Aug 200533(2): 114–120, DOI: https://doi.org/10.1016/j.pediatrneurol.2005.03.006 [PubMed]