ABCMdb

PMID: 21966101

Prasad R, Sharma H, Kaur G
Molecular basis of cystic fibrosis disease: an Indian perspective.
Indian J Clin Biochem. 2010 Oct;25(4):335-41. Epub 2010 Nov 19., [PubMed]

Sentences

No. Mutations Sentence Comment

98 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Val520Phe ABCC7 p.Ser549Asn ABCC7 p.Leu218* ABCC7 p.Glu1329Gln ABCC7 p.Gln493Leu ABCC7 p.Leu69His ABCC7 p.Tyr1381His ABCC7 p.Tyr517Cys 25 mutation Table 2 CFTR mutation identified in Indian population with classical CF [25] Genotype No. of subjects Delta F508/Delta F508 5 Delta F508/3849?10kb C-T 1 Delta F508/S549 2 Delta F508/Y138H 1 Delta F508/15251G-A 1 V520F/R117H 2 1530L/1530L 1 876-6del4/876-6del4 1 1792insA/1792insA 1 3986-3987delC/3986-3987delC 1 Delta F508/U 10 1161delC/U 2 L69H/U 1 R117H/U 1 Q493L/U 1 Y517C/U 1 S549N/U 3 G551D/U 1 E1329Q/U 1 N1303K/U 1 Y1381H/U 1 L218X/U 1 R553X/U 1 1525-1G-A/U 3 3120?1G-A/U 2 3849?10kbC-T/U 2 U/U 1 U unidentified panel were detected in our population at a combined frequency of (10%). Login to comment 99 ABCC7 p.Val520Phe ABCC7 p.Ser549Asn ABCC7 p.Leu218* ABCC7 p.Ser158Asn ABCC7 p.Ile530Leu ABCC7 p.Glu1329Gln ABCC7 p.Gln493Leu ABCC7 p.Leu69His ABCC7 p.Tyr1381His ABCC7 p.Tyr517Cys The other seven known but rare mutations (1161delC, Y517C, V520F, S549N, Y1381H, L218X and 1525-1G-A) were identified at a combined frequency of (17%), and eight new mutations (3986delC, 1792InsA, L69H, S158N, Q493L, I530L, E1329Q and 876-8del4) identified in our CF population represented (15%) of the total CF alleles analyzed. Login to comment 100 ABCC7 p.Ser549Asn Substitution mutation, S549N and splice site mutation, 1525-1G-A were the two most common mutations identified with a frequency of (4%) followed by another splice site mutation 3849?10kbC-T (3%). Login to comment 106 ABCC7 p.Gly542* G542X, second most common mutation (5%) in Hispanic Caucasians [42], was not found in our population. Login to comment 107 ABCC7 p.Trp1282* W1282X and 621?1G-T, that occur with a frequency greater than 1% in Non-Hispanic Caucasians [42] were also not detected. Login to comment 126 ABCC7 p.Arg117His In the CAVD patients with normal renal development, the initial screening identified one extra, R117H mutation in three chromosomes. Login to comment 127 ABCC7 p.Leu69His ABCC7 p.Gly126Ser ABCC7 p.Phe157Cys ABCC7 p.Phe87Ile ABCC7 p.Tyr852Phe ABCC7 p.Glu543Ala ABCC7 p.Asp1270Glu SSCP analysis performed in patients with only one or no mutation revealed nine further mutations on one allele each including seven new sequence alterations: L69H, F87I, G126S, F157C, E543A, Y852F and D1270E (Table 3). Login to comment 128 ABCC7 p.Arg117His ABCC7 p.Pro1021Ser Other identified mutations R117H, 3120?1[G-A and P1021S have been described previously in studies of patients with CAVD. Login to comment 130 ABCC7 p.Arg117His ABCC7 p.Pro1021Ser ABCC7 p.Leu69His ABCC7 p.Gly126Ser ABCC7 p.Phe157Cys ABCC7 p.Phe87Ile ABCC7 p.Tyr852Phe ABCC7 p.Glu543Ala ABCC7 p.Asp1270Glu Table 3 CFTR mutations identified and characterized in the Indian patients with CAVD [12] Mutation Nucleotide change No. of alleles T5 Reduction of oligo T tract to 5T at 1342-6 25 F508del Deletion of 3 bp(CTT or TTT) between 1652 and 1655 11 L69H T to A at 338 1 F87I T to A at 391 1 R117H G to A at 482 3 G126S G to A at 508 1 F157C T to G at 602 1 E543A A to C at 1760 1 Y852F A toT at 2687 1 3120?1G-A G to A 3120?1 1 P1021S CtoT at 3193 1 D1270E T to A at 3942 1 We documented NBD1 and NBD2 as the hotspot identified in the CFTR protein in Indian CF population, whereas the regions known to alter chloride permeability (transmembrane regions) and delta F508 mutation in NBD1 are the hot spot for mutation identification in our genital form of CF cases (obstructive azoospermia). Login to comment