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2012 ; 1
(4
): 221-7
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Screening of the CFTR gene in Indian patients
#MMPMID27625827
Deepak RR
; Ashavaid TF
J Pediatr Genet
2012[Dec]; 1
(4
): 221-7
PMID27625827
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Cystic fibrosis (CF) has been observed to be far more common in India, than was
previously thought. Variability in CF clinical symptoms among individuals,
results in diagnostic errors. Also, CF diagnostic facilities are not available at
all diagnostic centers across India. Sweat test (gold standard for CF diagnosis)
has some limitations. Mutation analysis, therefore, would be useful in detecting
the mutant CF alleles in Indian patients. This study, aimed at identifying common
CF transmembrane conductance regulator (CFTR) mutations, to develop a molecular
diagnostic test in Indian patients, and establish genotype-phenotype correlation.
Mutation identification was performed by single stranded conformation
polymorphism (SSCP) screening, followed by DNA sequencing of regions with an
abnormal SSCP pattern. ?F508 accounts for about 53% of CF alleles. A substantial
proportion of these patients have rare and/or novel mutations. Eight novel and 12
known polymorphisms were also identified. Considering the high percentage of
rare/novel mutations, along with ethnic history of Indian population, we can
speculate that the remaining uncharacterized mutations might also not be
prevalent mutations. The total number of CF disease-causing mutations in Indian
patients is very large. Thus, DNA-based population screening will be complicated,
and an indirect genetic diagnosis (screening entire gene) would be necessary to
characterize all mutations.
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