ABCMdb

PMID: 1284471

Chevalier-Porst F, Chomel JC, Hillaire D, Kitzis A, Kaplan JC, Goutaland R, Mathieu M, Bozon D
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island.
Hum Mol Genet. 1992 Nov;1(8):647-8., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Tyr122* This mutation creates a stop codon (TAA) at amino acid position 122 of CFTR instead of a tyrosine (TAT) and thus was named Y122X. Login to comment 7 ABCC7 p.Tyr122* Y122X is located in the first transmembrane spanning region and is predicted to create a truncated, non functional, polypeptide. Login to comment 10 ABCC7 p.Tyr122* The maternal CF chromosome bearing Y122X carries the C haplotype defined by the extragenic DNA markers XV2C and KM19 (7). Login to comment 12 ABCC7 p.Tyr122* The screening for Y122X in this particular population by Msel digestion showed that 19 CF chromosomes out 66 are positive, 4 patients being homozygous. Login to comment 13 ABCC7 p.Tyr122* In this population delta F508 represents 39% of the CF alleles and Y122X 29%. Login to comment 14 ABCC7 p.Tyr122* In our sample of 1000 CF chromosomes from mainland France, delta F508 accounts for 68 % of the CF alleles and none of them tested by Msel digestion carry Y122X. Login to comment 18 ABCC7 p.Tyr122* Identification of Y122X on a 10% acrylamide gel electrophoresis after Msel digestion of exon 4 amplified product showing the segregation in a CF family: the affected child is homozygous for this mutation. Login to comment 19 ABCC7 p.Tyr122* F508 + Y122X) account for 68% of the CF chromosomes is probably due to the settlement of the population in this island. Login to comment 20 ABCC7 p.Tyr122* Y122X has been found only on CF chromosomes of white Caucasians known as 'petits blancs' who are the descendants of * To whom correspondence should be addressed atUniversityofNorthCarolinaatChapelHillonOctober25,2012http://hmg.oxfordjournals.org/Downloadedfrom 648 Human Molecular Genetics, Vol. 1, No. 8 the first French Settlers (46 men and 37 women) in the XVIIth century (8). Login to comment 24 ABCC7 p.Tyr122* ABCC7 p.Tyr122* The real origin of Y122X is unknown but the fact that all the Y122X chromosomes are of the same haplotype group (C) suggests a common origin for these chromosomes. Login to comment 25 ABCC7 p.Tyr122* In the remaining non delta F508, non Y122X CF chromosomes, the distribution of haplotypes does not differ significantly from the one observed in mainland France, suggesting that several rare mutations must account for these alleles. Login to comment