ABCMdb

PMID: 7509564

Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al.
Genetic analysis of Hispanic individuals with cystic fibrosis.
Am J Hum Genet. 1994 Mar;54(3):443-6., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly314Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Tyr122* ABCC7 p.Arg560Thr The following CFTR gene mutations were identified by published methods: AF508 (Rommens et al. 1990); G542X (Kerem et al. 1990); GS51D and R553X (Cutting et al. 1990); R1162X (Gasparini et al. 1991); W1282X (Vidaud et al. 1990); N1303K (Osborne et al. 1991); 3849 +lOkbC- T (Highsmith et al., submitted); and R117H, Y122X, 1148T, 621+1G-*oT, 711+1G- T, G314E, 1078AT, R334W, R347P, Q493X, A1507, V520F, 1717 -1G-oA, R560T, and 3569AC (J. DeMarchi et al., submitted). Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Alternatively, the G542X, G551D, R553X, and N1303K mutations were assayed by the method of Ng et al. Login to comment 47 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly314Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Tyr122* ABCC7 p.Arg560Thr The following CFTR gene mutations were identified by published methods: AF508 (Rommens et al. 1990); G542X (Kerem et al. 1990); GS51D and R553X (Cutting et al. 1990); R1162X (Gasparini et al. 1991); W1282X (Vidaud et al. 1990); N1303K (Osborne et al. 1991); 3849 +lOkbC-T (Highsmith et al., submitted); and R117H, Y122X, 1148T, 621+1G-*oT, 711+1G-T, G314E, 1078AT, R334W, R347P, Q493X, A1507, V520F, 1717 -1G-oA, R560T, and 3569AC (J. DeMarchi et al., submitted). Login to comment 48 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Alternatively, the G542X, G551D, R553X, and N1303K mutations were assayed by the method of Ng et al. Login to comment 49 ABCC7 p.Arg1162* Results One hundred twenty-nine chromosomes from Hispanic individuals with CF were screened for 23 of the more common CFTR gene mutations worldwide, including one additional mutation (R1162X) common to Spanish individuals with CF (table 1). Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Arg1162* The G551D mutation, present in 3%-4% of CF chromosomes in the general population (Tsui 1992), was not detected in any of the chro- Table I Mutation Data Frequency in General Frequency (%) Populationa in Hispanic Mutation (%) Population AF508. Login to comment 52 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Gly542* .................. 67.1 59/129 (46) G542X .................. 3.4 7/129 (5.4) 3849+10kbC--T ......... Unknown 3/129 (2.3) G551D .................. 2.4 0/129 (0) R553X .................. 1.3 1/129 (.8) R1162 .................. .85b 2/129 (1.6) R334W .................. <1 2/129 (1.6) W1282X ................. 2.1 1/129 (.8) Otherc .................. 65 0/129 (0) Undetected ............... 15 54/129 (42) a CF Consortium 1992, unpublished data. Login to comment 53 ABCC7 p.Gly551Asp The G551D mutation, present in 3%-4% of CF chromosomes in the general population (Tsui 1992), was not detected in any of the chro- Table I Mutation Data Frequency in General Frequency (%) Populationa in Hispanic Mutation (%) Population AF508. Login to comment 54 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly314Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Tyr122* ABCC7 p.Arg560Thr COther = A1507, 621+1G- T, R117H, N1303K, 711+1G-*.T, 1717-1G-.A, R560T, Y122X, 1148T, G314E, 1078AT, R347P, Q493X, V520F, and 3659AC. Login to comment 56 ABCC7 p.Arg117His ABCC7 p.Arg347Pro ABCC7 p.Gly314Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Tyr122* ABCC7 p.Arg560Thr The G542X mutation was found in 5.4% of Hispanic CF chromosomes, similar to the 3% frequency in the general population. Login to comment 58 ABCC7 p.Gly542* The G542X mutation was found in 5.4% of Hispanic CF chromosomes, similar to the 3% frequency in the general population. Login to comment 61 ABCC7 p.Arg334Trp The R334W mutation, found in 2 (1.6%) of 129 chromosomes in our study, was first identified in southern European populations and makes up - 1% of CF mutations in this group (Gasparini et al. 1991). Login to comment 62 ABCC7 p.Arg1162* The R1162X mutation, which was first identified in Spanish individuals (Gasparini et al. 1991), was also detected in our population in 2 (1.6%) of 129 chromosomes. Login to comment 63 ABCC7 p.Arg334Trp The R334W mutation, found in 2 (1.6%) of 129 chromosomes in our study, was first identified in southern European populations and makes up - 1% of CF mutations in this group (Gasparini et al. 1991). Login to comment 64 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* Three other mutations-R553X, W1282X, and N1303K-are rare in many populations, and any deviation from expected frequencies cannot be determined from our study. Login to comment 66 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* (%) OF HAPLOTYPES CHROMOSOME TYPE A B C D TOTAL CF: AF508 ............ 2 (4) 36 (72) 5 (10) 7 (14) 50 Non-AF508a ....... 12 (29) 14 (33) 14 (33) 2 (5) 42 Normal" ............. 22 (49) 5 (11) 16 (34) 4 (9) 47 a Includes chromosomes carrying either G542X, RI 162X, W1282X, R334W, R553X, 3849+10kbC-*oT, or an unidentified mutation." Login to comment 68 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Gly542* (%) OF HAPLOTYPES CHROMOSOME TYPE A B C D TOTAL CF: AF508 ............ 2 (4) 36 (72) 5 (10) 7 (14) 50 Non-AF508a ....... 12 (29) 14 (33) 14 (33) 2 (5) 42 Normal" ............. 22 (49) 5 (11) 16 (34) 4 (9) 47 a Includes chromosomes carrying either G542X, RI 162X, W1282X, R334W, R553X, 3849+10kbC-*oT, or an unidentified mutation. " Login to comment 77 ABCC7 p.Asn1303Lys The absence of the N1303K mutation among Hispanic patients distinguishes this group from those of southern Europe, where it is found on >6% of CF chromosomes (Nunes et al. 1991). Login to comment 79 ABCC7 p.Asn1303Lys The absence of the N1303K mutation among Hispanic patients distinguishes this group from those of southern Europe, where it is found on >6% of CF chromosomes (Nunes et al. 1991). Login to comment 85 ABCC7 p.Gly542* This has been observed elsewhere (European Working Group in CF Genetics 1990), and several mutations, including G542X and GSS1D, have been identified on chromosomes of this haplotype (Kerem et al. 1990). Login to comment 87 ABCC7 p.Gly542* This has been observed elsewhere (European Working Group in CF Genetics 1990), and several mutations, including G542X and GSS1D, have been identified on chromosomes of this haplotype (Kerem et al. 1990). Login to comment