Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease
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چکیده
منابع مشابه
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
BACKGROUND Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were collected and investigated for genotype, phenotype, and their correlations. RESULTS The majority of ...
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Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missense mutations in SMPD1 are listed in the Human Gene Mutation Database. However, not every sequence va...
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Protocol: To detect the 506 polymorphism, a 567 bp SMPD1 genomic fragment is amplified using sense (5'-AGTAGTCGACATGGGCAGGATGTGTGG-3') and antisense (5'-AGTAGTGTCGACTTGCCTGGTTGAACC AC AGC-3') primers. Dot-blot hybridization is performed using allele-specific oligonucleotides for 506-Arg (5'-ACTACTCCAGGAGCTCT-3') and for 506-Gly (5'-ACTACTCCGGGAGCTCT-3'), which are hybridized at 42°C and washed ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2017
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.38040