ABCMdb

PMID: 1376017

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
Am J Hum Genet. 1992 Jun;50(6):1185-94., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Detection of Exons 4 and 7 Mutations Patients with one or more unknown mutations were screened for mutations R117H and 621 + 1G--T in exon 4, by using allele-specific oligonucleotide (ASO) hybridization, and mutations R334W and R347P in exon 7, by using restriction-enzyme digestion (Dean et al. 1990; Gasparini et al. 1991; Shrimpton et al. 1991). Login to comment 52 ABCC7 p.Arg117His Mutations R117H and Table I Oligonucleotides Used for DNA Sequencing Exon Sequencing Primer (sequence) 1 ... le-5' (5'-AGGCACCCAGAGTAGT-3') liF (5'-TCGGCTTTTAACGTGG-3') 2 .... Ex2Seq (5'-GACCAAATCAAGTGAATATCTGT-3') 9 .... 9s-3' (5'-AGACATGGACACCAAATTAAG-3') CF 38 (5'-GAAATTAATATCTTTCAGGACAGG-3') 10 ... lOs-5' (5'-AAGTGAATCCTGAGCGTG-3') lOs-3' (5'-GTAGTGTGAAGGGTTCAT-3') 11 ... li-S' (5'-CAACTGTGGTTAAAGCAATAGTGT-3') 12 ... 12s-5' (5'-GACCAGGAAATAGAGAGG-3') 19 ... 19s-5' (M-AAATTGTCTGCCATTCTT-3') 19i-3' (5'-GCTAACACATTGCTTCAGGCT-3') 20 ...... 20s-5' (5'-TATTTATGGCATGGTACC-3') 20s-3' (5'-CGTACAAGTATCAAATAGCAGT-3') 21 ...... 21s-5' (5'-TTACAATACAATAAGGGA-3') 22 ...... 22i-5'a (5'-GAATGTCAACTGCTTGAGTG-3') 22i-3' (5'-CACCATGAAGCAGGCATAA-3') 23 ...... 23s-5' (5'-GTGATATTATGTGTGG-3') 621 + 1G-*T were detected by using oligonucleotides CF48 (5'-GAGGAACACTCTATC-3') (Dean et al. 1990) and 337J (5'-GGAAGTATTAACTTCTTA- TA-3'), respectively. Login to comment 58 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Mutations R334W and R347P were detected by using restriction digestion with enzymes MspI and HhaI, respectively, as reported elsewhere (Gasparini et al. 1991; Shrimpton et al. 1991). Login to comment 63 ABCC7 p.Glu1371* ABCC7 p.Gln39* The mutations C247-1T and G4243-,T produce termination signals in exon 2 (Q39X) and exon 22 (E1371X), respectively. Login to comment 66 ABCC7 p.Tyr563Asn The first patient had a missense mutation, tyrosine to asparagine at codon 563, on the other chromosome (Kerem et al. 1990). Login to comment 69 ABCC7 p.Gln39* Novel CFTR Gene Mutations, by Location HAPLOTYPEa EXON NUCLEOTIDE CHANGE PREDICTED EFFECT CODON ABBREVIATION XV2c KM19 D9 G2 2 ............. C247-'T Gln to Stop 39 Q39X 2 2 2 1 Intron 8 .... G-C at 1342-1 Aberrant RNA splicing ... 1342-1 G-C 2 2 2 2 19 ....... Login to comment 70 ABCC7 p.Glu1371* Deletion of A3662 Frameshift ... 3662delA U 2 2 1 A3793-bG Ile-to-Val substitution 1203 11203V 2 2 U 2 G3849-A Aberrant RNA splicing ... G3849-A U U U U 22 ....... G4243- T Glu to Stop 1371 E1371X 1 1 U U B. CFTR Gene Sequence Polymorphisms, by Location EXON NUCLEOTIDE CHANGE PREDICTED EFFECT CODON 1 ...... .......G25or G No change 5' Untranslated 10 .A...A1713 or G1713 No change 527 20 . Login to comment 88 ABCC7 p.Ile1203Val ABCC7 p.Ile1203Val A nucleotide substitution of A for G at position 3739 in exon 19, causing the amino acid substitution of isoleucine for valine at codon 1203 (I1203V), was found in one African-American patient. Login to comment 91 ABCC7 p.Ser1255* Most important, this change was identified on a chromosome carrying a nonsense mutation in exon 20 (S1255X) (Cutting et al. 1990a). Login to comment 92 ABCC7 p.Ile1203Val Therefore, it is unclear whether I1203V is associated with disease or is merely an accumulated mutation in a nonfunctioning gene. Login to comment 95 ABCC7 p.Gly542* One mutation, G542X, was observed in all four groups. Login to comment 96 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Ser549Asn Two other mutations (S549N and R553X) in African-Americans have been reported to occur in Caucasian CF patients, although R553X is probably a recurrent mutation (Reiss et al. 1991). Login to comment 104 ABCC7 p.Arg560Thr Another exon 11 mutation, R560T, originally reported on a single chromosome (Kerem et al. 1990) was found five times in the Northern Irish. Login to comment 106 ABCC7 p.Asn1303Lys The missense mutation N1303K was found on one chromosome from each of thethree Caucasianpopulations. Login to comment 109 ABCC7 p.Trp1282* Screening of the Ashkenazi population in Israel demonstrated that W1282X is the most common CF mutation, accounting for almost 50% of mutations (Lerer et al. 1992). Login to comment 112 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Four mutations, R117H (Dean et al. 1990) and 621 + 1 G-'T (Zielinski et al. 1991a) in exon 4 and R334W (Gasparini et al. 1991) and R347P (Dean et al. 1990) in exon 7, occur with some frequency in these populations. Login to comment 114 ABCC7 p.Arg117His Three CF chromosomes from three U.S. Caucasians and from two Northern Irish patients were found to carry the 621 + 1G--T mutation, and one chromosome from a Northern Irish patient carried the R117H mutation. Login to comment 125 ABCC7 p.Trp1282* ABCC7 p.Gly542* However, any explanation should take into account both the high frequency of the null allele G542X in almost all populations studied and the predominance of the nonsense mutation W1282X in Ashkenazi patients. Login to comment 126 ABCC7 p.Ile1203Val The discovery ofa rare missense mutation (I1203V) on a CF chromosome bearing a nonsense mutation reveals a further complication of mutation analysis. Login to comment 147 ABCC7 p.Trp1282* One mutation (W1282X) was found in high frequency in Ashkenazi Israelis, probably reflecting founder effect. Login to comment 148 ABCC7 p.Ala455Glu This phenomenon also appears to account for the high frequency of mutations 621 + 1G-*T and A455E observed in French-Canadian families from the Saguenay-Lac St. Jean region ofQuebec (Rozen et al. 1992). Login to comment 150 ABCC7 p.Arg560Thr The frequent observation of the R560T mutation in Northern Irish may be an example of drift. Login to comment 165 ABCC7 p.Arg1162* As shown in table 4, screening for a second subset ofmutations (group 2) which are in high frequency in some populations (e.g., R1162X in southern Europeans and 711+1G-+ T in French-Canadians in Quebec) can increase the detection level substantially for those populations. Login to comment 212 ABCC7 p.Gly542* Lerer I, Sagi M, Cutting GR, Abeliovich D (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients. Login to comment 225 ABCC7 p.Trp1282* Nucleic Acids Res 15:7155-7175 Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, et al (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment