1. Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy
- Author
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Shukla, Pallavi, Gupta, Neerja, Gulati, Sheffali, Ghosh, Manju, Vasisht, Suman, Sharma, Raju, Gupta, Arun K., Kalra, Veena, and Kabra, Madhulika
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ADRENOLEUKODYSTROPHY , *MOLECULAR biology , *GENETIC mutation , *GEL electrophoresis , *PREGNANCY , *GENETIC polymorphisms , *CHORIONIC villi , *PRENATAL diagnosis - Abstract
Abstract: Background: X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene. No molecular data on X-ALD is available in India and mutational spectrum in Indian patients is not known. Methods: We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype–phenotype correlation was also attempted. Prenatal diagnosis (PND) in one family was done using chorionic villi (CV) sample at 12weeks of gestation. Results: Out of twenty, causative mutations could be identified in twelve patients (60%). Six reported and four novel mutations were identified. Three polymorphisms were also observed. No hot spot was found. No significant genotype–phenotype correlation could be established. Conclusions: The study identified the mutation spectrum of Indian X-ALD patients, which enabled us to offer accurate genetic counseling, carrier detection and prenatal diagnosis where needed. [Copyright &y& Elsevier]
- Published
- 2011
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