Is the spectrum of mutations in Indian patients with cystic fibrosis different?

Kabra, Madhulika; Kabra, S K; Ghosh, Manju; Khanna, Aarti; Arora, Sadhana; Menon, Purnima; Verma, Ishwar C.; Wallace, Andrew

doi:10.1002/1096-8628(20000717)93:2<161::aid-ajmg15>3.0.co;2-l

Cited by 43 publications

(39 citation statements)

References 10 publications

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“…Schwarz et al reported six affected Pakistani children, of whom three were homozygous for the delta F508 mutation [35]. By Kabra et al [14,36,37], CF patients in India have been little studied. In the present investigation, we document that delta F508 mutation represents only 24% of the analyzed CF alleles.…”

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

“…Comparison of delta F508 allele frequency with that reported from the Western countries shows that the Indian group has low percentage of the delta F508 frequency. A review of all genotyped South Asian patients, shows that delta F508 was identified in 19-44% of CF alleles [4,14,35,36,[38][39][40][41], considerably lower than the reported frequency of 66% in the worldwide CF population. The frequency of delta F508 mutation in Indian children is reported to be between 19 and 44% [14,36,37].…”

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

“…A review of all genotyped South Asian patients, shows that delta F508 was identified in 19-44% of CF alleles [4,14,35,36,[38][39][40][41], considerably lower than the reported frequency of 66% in the worldwide CF population. The frequency of delta F508 mutation in Indian children is reported to be between 19 and 44% [14,36,37]. In a report of 120 Indian children with CF [36], the delta F508 mutation was identified in 45 chromosomes (19%) out of the 240 tested, 19 patients (16%) were homozygous and 7 (6%) were heterozygous for the mutation.…”

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

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Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

Prasad

Sharma

Kaur³

2010

Ind J Clin Biochem

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Cystic fibrosis is a common autosomal recessive disorder usually found in population of white Caucasian descent. Now it is well documented the presence of CF disease in India with the advancement of laboratory testing. As once it was thought non existence of this disease in our population. Most of the phenotype of CF disease was in accordance of western population. Genetic analysis of CFTR gene in Indian CF patients revealed that most common mutation was delta F508 mutation. However, it was less than Caucasian population. CFTR mutations are also a causative factor in the pathogenesis of male infertility due to obstructive azoospermia. There are two most common mutation viz. IVS8-T5 and delta F508 which are responsible for congenital absence of vas deferens in male infertility patients. Elevated levels of sweat chloride at two occasions along with the presence of two mutations in CFTR gene was gold standard method for diagnosis of CF disease. It is noteworthy here that due to magnitude of Indian population, the total CF disease load would be more than many European countries. Clinical data demonstrate the prevalence of both classical and genetic form of CF in India.

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Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 99%

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Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

Prasad

Sharma

Kaur³

2010

Ind J Clin Biochem

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“…There is no denying that the c.1521_1523delCTT mutation is the most common mutation in western populations, where its frequency is approximately two thirds (66%) of all CF chromosomes. In contrast, its frequency in Indian CF children is reported to be about 30% (Kabra et al 2000(Kabra et al , 2003. All c.1521_1523delCTT chromosomes revealed the same KM.19-GATT-TUB9-M470V-T854T haplotype.…”

Section: Discussionmentioning

confidence: 99%

Implication of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Family Members of Indian CF Patients

et al. 2008

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Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Among males with CF, 95% are infertile due to congenital absence of the vas deferens. We investigated the role of family history of infertility among CF subjects and characterized mutations in them. Among 50 CF subjects, four had a family history of infertility. A homozygous c.1521_1523delCTT mutation was detected in one, two had a compound heterozygous genotype (c.1521_1523delCTT/c.3717 + 10 kbC>T), and c.1521_1523delCTT mutation was identified on one allele of fourth CF subject. Genetic analysis of each infertile family members of CF subjects revealed the c.1521_1523delCTT mutation on one allele; however, no mutation could be identified on other allele. Haplotype analysis of the infertile family members showed that at least one of the alleles shared the same haplotype as that of the index case. It is suggested that the CFTR gene is implicated in the infertile members of the CF families. Failure to detect mutations on the other allele by SSCP analysis demands direct gene sequencing to detect mutations in the intronic or promoter region.

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“…Overpopulation has consequently led to poor sanitary conditions and water logging at various places. A major epidemic of DHF from Delhi was last reported in the year 1996 after which DI became a notifiable disease and a number of policies were formulated to bring the DI as well as its vector under control [21][22].…”

Section: Introductionmentioning

confidence: 99%