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.