ABCMdb

PMID: 1281385

Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C
Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.
Am J Hum Genet. 1992 Dec;51(6):1344-8., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser549Asn When a panel of 10 mutations (AF508, AI507, G542X, G551D, R553X, S549N, R1162X, W1282X, N1303K, and 1717-1G--A) was used, detection rates ranged from 75% in non-Ashkenazi Caucasians to 40% in African-Americans. Login to comment 36 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser549Asn Mutation Analysis DNA from each subject was screened for the following mutations: AF508 (Kerem et al. 1989a), G542X (Kerem et al. 1990), GS51D (Cutting et al. 1990), R553X (Cutting et al. 1990), S549N (Cutting et al. 1990), R1162X (Gasparini et al. 1991), W1282X (Vidaud et al. 1990), N1303K (Osborne et al. 1991), and 1717-1G- A (Guillermit et al. 1990; Kerem et al. 1990). Login to comment 44 ABCC7 p.Gly542* G542X. Login to comment 47 ABCC7 p.Ser549Asn GSS ID, RSS3X, and S549N.-DNA (0.5-1 ig) was subjected to amplification by PCR using primers 11i-5 and 1 i-3, according to published protocol (Kerem et al. 1990). Login to comment 55 ABCC7 p.Asn1303Lys N1303K and 1717-1G--)A.-DNA (0.5-1 ig) was subjected to amplification by PCR using primers and PCR conditions described by Friedman et al. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Gly542* The fact that only approximately 60% of our Caucasian sample was of northern European ancestry may account for the relatively low frequency (.60) of AF508 in Chicago-area non-Ashkenazi Caucasians. The frequencies of the next two most common mutations, G542X and G551D, are also consistent with the ethnic composition of our sample. Login to comment 61 ABCC7 p.Gly542* The G542X mutation is fairly common throughout Europe, particularly in southern Europe (Nunes et al. 1991). Login to comment 63 ABCC7 p.Gly551Asp ABCC7 p.Arg553* The G551D mutation is believed to be of Celtic origin (Macek et al. 1991); eight of the nine carriers in our sample were of Irish or English ancestry. The frequency ofthe R553X mutation, which was detected in one Caucasian carrier and in one African-American carrier, was lowerthan frequencies reported by other U.S. laboratories (Cystic Fibrosis Genetic Analysis Consortium, in press). Login to comment 65 ABCC7 p.Arg1162* The two R1162X carriers in our sample were unaware of any Italian ancestry. Login to comment 67 ABCC7 p.Trp1282* The W1282X mutation is the most common Ashkenazi mutation in Israel (Shoshani et al. 1992). Login to comment 69 ABCC7 p.Asn1303Lys Nevertheless, testing for this mutation significantly increases the detection rate among Ashkenazi, although it is relatively infrequent among non-Ashkenazi Caucasians. The N1303K mutation, which is fairly common throughout Europe, was detected in five carriers who were all of English, Irish, or German ancestry. Login to comment 80 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Among 20 Pueblo and Navajo CF chromosomes, only one mutation (G542X) was detected by a panel of six mutations (AF508, G542X, GSS1D, R553X, G542X, and N1303K). Login to comment