ABCMdb

PMID: 10923221

Dawson KP, Frossard PM
The geographic distribution of cystic fibrosis mutations gives clues about population origins.
Eur J Pediatr. 2000 Jul;159(7):496-9., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Eur J Pediatr (2000) 159: 496±499 Ó Springer-Verlag 2000 K. P. Dawson (&) Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, PO Box 17666, Al Ain, United Arab Emirates P. M. Frossard Department of Pathology, Faculty of Medicine and Health Sciences, UAE University, PO Box 17666, Al Ain, United Arab Emirates We present here population genetics data that has been gathered about the DF508 mutation and information with regards to two other common mutations, namely G542X and N1303K. Login to comment 45 ABCC7 p.Gly542* ABCC7 p.Gly542* The G542X mutation G542X, a nonsense mutation, is the second most common mutation after DF508. Login to comment 49 ABCC7 p.Gly542* Kerem et al. [10] described the G542X in their major paper on the identi®cation of the CF gene. Login to comment 53 ABCC7 p.Gly542* They have produced a fascinating hypothesis that the areas with an elevated frequency of the G542X mutation correspond to ancient sites of occupation by the occidental Phoenicians. Login to comment 56 ABCC7 p.Gly542* Thus the evidence to date suggests that the G542X mutation may provide another link in the story of the spread of the CF gene mutations and in the de®nition of their geography [1]. Login to comment 58 ABCC7 p.Asn1303Lys The frequency of the N1303K allele varies signi®cantly between countries and ethnic groups. Login to comment 60 ABCC7 p.Gly542* Microsatellite markers indicate that the mutation is about 35,000 years old (similar to G542X) and again diusion through Europe from an Asian origin is suggested by these recent ®ndings [8]. Login to comment 66 ABCC7 p.Gly1249Glu These studies revealed that one patient was homozygous for the 3120 + 1G ® A mutation and the other two were compound heterozygotes for 3120 + 1G ® A/G1249E and 3120 + 1G ® A/3196 del 54 [3]. Login to comment 104 ABCC7 p.Gly542* Loirat F, Hazout S, Lucotte G (1997) G542X as probably Phoenician cystic ®brosis mutation. Login to comment 113 ABCC7 p.Asn1303Lys Osborne L, Santis G, Schwarz M, Osborne L, Santis G, Schwarz M, Klinger K, DoÈ rk T, McIntosh I, Schwartz M, Nunes V, Macek Jr. M, Reiss J, Highsmith Jr. WE, McMahon R, Novelli G, Malik N, BuÈ rger J, Anvret M, Wallace A, Williams C, Mathew C, Rozen R, Graham C, Gasparini P, Bal J, Cassiman JJ, Balassopoulou A, Davidow L, Raskin S, Kalaydjieva L, Kerem B, Richards S, Simon-Bouy B, Super M, Wulbrand U, Keston M, Estivill X, Vavrova V, Friedman KJ, Barton D, Dallapiccola B, Stuhrmann M, Beards F, Hill AJM, Pignatti PF, Cuppens H, Angelicheva D, TuÈ mmler B, Brock DJH, Casals T, Macek M, Schmidtke J, Magee AC, Bonizzato A, DeBoeck C, Kuardjieva A, Hodson M, Knight RA (1992) Incidence and expression of the N1303K mutation of the cystic ®brosis (CFTR) gene. Login to comment