ABCMdb

PMID: 9781064

Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B
Screening of CFTR mutations in an isolated population: identification of carriers and patients.
Eur J Hum Genet. 1998 Mar-Apr;6(2):181-4., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Gly85Glu Two mutations, G85E and ∆F508, accounted for all the CF alleles of these patients. Login to comment 6 ABCC7 p.Gly85Glu The results revealed high carrier frequency, 8.5%, for the two CFTR mutations, G85E and ∆F508, and a carrier frequency of 12% for the 5T allele. Login to comment 7 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu Two compound heterozygotes for the CFTR mutations, ∆F508/G85E and G85E/5T, were identified. Login to comment 33 ABCC7 p.Gly85Glu Mutation Analysis Analysis of CFTR mutations was performed by polymerase chain reaction (PCR) using oligonucleotide primers for the amplification of exons 3, 10 and 98 to identify the mutations G85E, ∆F508 and 5T respectively. Login to comment 34 ABCC7 p.Gly85Glu Mutation detection was performed as described elsewhere: G85E,3 ∆F5089 and 5T.7 Results and Discussion The screened population descended from one original family, which had founded the village near Jerusalem in the 16th century. Login to comment 37 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu The group studied was tested for the ∆F508 and the G85E mutations which accounted for all the CFTR mutations carried by the CF patients known in this village.10 Of the 497 students, we found that 41 (8.3%) were carriers of the G85E mutation and one (0.2%) was a carrier of the ∆F508 mutation. Login to comment 40 ABCC7 p.Gly85Glu Therefore, we recalculated the carrier frequency according to nuclear families. This analysis revealed that 22 (7.7%) of the nuclear families had 1-4 carriers of the G85E mutation and one family (0.4%) had a ∆F508 carrier. Login to comment 47 ABCC7 p.Gly85Glu Thus, the overall CF carrier frequency (for the ∆F508, G85E and the 5T allele) is very high, > 20%, indicating that CF disease is a major health problem in this village. Login to comment 49 ABCC7 p.Gly85Glu One of the students was compound heterozygous for the G85E and the ∆F508 mutations. Login to comment 54 ABCC7 p.Gly85Glu This child had a brother who had died from CF at 6 years of age. Another student was initially found in the screening program to be heterozygous for the G85E mutation. Login to comment 69 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu In the course of the screening program two additional CF patients were identified (∆F508/G85E and G85E/5T as mentioned above). Login to comment 73 ABCC7 p.Gly85Glu This strong deviation from the Hardy-Weinberg calculation reflects the extent of consanguineous marriage12 which is characteristic of Arab villages in Israel.13 We also screened 89 relatives of the CF patients for the G85E and ∆F508 mutations, aiming to identify additional carriers and patients. Login to comment 76 ABCC7 p.Gly85Glu of Carrier families with Carrier Mutation carriers frequency (%) carriers frequency (%) G85E 41 8.3 22 7.7 ∆F508 1 0.2 1 0.4 Total 42 8.5 23 8.1 5Ta 24 12 21 13 aThe size of the group which was screened for the 5T allele was n=203 for the students and n=161 for the nuclear families. Login to comment 78 ABCC7 p.Gly85Glu Forty carried the G85E mutation and four carried the ∆F508 mutation. Login to comment 81 ABCC7 p.Gly85Glu The screening results of the ∆F508 and the G85E mutations were reported to the physicians of the village. Login to comment