Identification and Characterization of CFTR Gene Mutations in Indian CF Patients

Sharma, Nidhi; Singh, Meenu; Kaur, Gurjit; Thapa, Babu Ram; Prasad, Rajendra

doi:10.1111/j.1469-1809.2008.00477.x

Cited by 27 publications

(27 citation statements)

References 38 publications

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“…Among cases mutant allele frequency of R553X mutation was 1.4 %, whereas in control mutant allele frequency was 0.8 % respectively. This mutation was reported in cystic fibrosis cases like, from Chandigarh identified R553X mutation in one cystic fibrosis patient [29]. Worldwide frequency of this mutation was reported as 1.8 % in France, 2.9 % in Turkey 0.6 % in Bulgaria, 0.9 % in USA and 0.5 % in Mexico respectively in CF cases [20]; however its frequency has not been reported in asthmatic cases yet (Table 7).…”

Section: Discussionmentioning

confidence: 99%

CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

Dixit¹,

Awasthi²,

Maurya³

et al. 2013

Ind J Clin Biochem

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Cystic Fibrosis Trans membrane conductance regulator (CFTR) gene is an asthma susceptibility gene. In the present study we investigated the possible association of CFTR gene mutations in Indian asthmatic children as compared to controls. The study included 250 asthmatics and 250 age and sex matched controls. Case to control ratio for sample size was 1:1. Genotyping was performed for 24 CFTR gene mutations by ARMS-PCR and PCR-RFLP method. Among 24 CFTR gene mutations, heterozygous allele of R553X mutation was found in 4 (1.6 %) asthmatic cases and 2 (0.8 %) controls. Value of FVC and FEV1/ FVC ratio were significantly lower in heterozygous individuals (p value \0.05). No significant difference was observed in the genotype and allele frequency of R553X mutation (OR = 1.339, 95 % CI = 0.755-2.374, p value = 0.685). Furthermore, all wild type homozygous alleles were observed in remaining 23 CFTR gene mutations. Our data concludes that R553X mutation was not significantly associated in Indian asthmatic children.

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Section: Discussionmentioning

confidence: 99%

CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

Dixit¹,

Awasthi²,

Maurya³

et al. 2013

Ind J Clin Biochem

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“…The figure for patients originating from other parts of India was 13 (13%) out of 97% patients. The spectrum of mutations other than delta F508 in Indian patients is highly variable and some rare and new mutations have been observed [25,36].…”

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationmentioning

confidence: 98%

“…Little is known about the spectrum and frequency of CFTR gene mutations in India. Our recent study as well as few other investigations have provided evidence for an extensive allelic heterogeneity in Indian patients with classic CF [25][26][27]. Congenital absence of vas deferens, as a distinct clinical entity with regard to CFTR mutations, has never been investigated in our population.…”

Section: Prevalence and Clinical Manifestations Of Cf Diseasementioning

confidence: 99%

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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“…CF is caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and ~2,000 sequence variants have been identified, of which ∆F508 is the predominant mutation (2,(4)(5)(6).…”

mentioning

confidence: 99%

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

et al. 2014

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Background: Data on the micronutrient levels in children with cystic fibrosis (CF) are not available from developing countries, wherein the nutritional profile of children is quite different from that of Western countries. Methods: Levels of fat-soluble vitamins (A, D, and E) and trace metals (iron, copper, and zinc) were measured in 27 CF cases and 27 controls. results: CF cases had significantly low levels of all studied micronutrients compared with controls, and the levels were even lower in cases with exacerbation than in stable CF cases. Prevalence of deficiency of vitamin D, vitamin E, iron, copper, and zinc was significantly higher in cases than in controls, whereas vitamin A deficiency was almost equal in both the groups. conclusion: The prevalence of deficiency of vitamins A, D, and E and iron, copper, and zinc was high in CF cases, and their levels were significantly lower in cases than controls. CF cases should be regularly monitored for these micronutrients, and appropriate supplementation should be considered.

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Identification and Characterization of CFTR Gene Mutations in Indian CF Patients

Cited by 27 publications

References 38 publications

CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

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