ABCMdb

PMID: 9683582

Dork T, El-Harith EH, Stuhrmann M, Macek M Jr, Egan M, Cutting GR, Tzetis M, Kanavakis E, Carles S, Claustres M, Padoa C, Ramsay M, Schmidtke J
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.
Am J Hum Genet. 1998 Aug;63(2):656-62., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Gly1249Glu ABCC7 p.Gly1249Glu However, a continuous gene flow between Arab and African populations probably Intra-and Extragenic CFTR Marker Haplotypes of the 3120ϩ1GrA Mutation in Diverse Populations GROUP AND MUTATIONS HAPLOTYPE a MetH (MspI) XV2c (TaqI) CS.7 (HhaI) KM.19 (PstI) J44 (XbaI) IVS8CA TUB9 (MnlI) M470 (HphI) T854 (AvaII) TUB15 (NsiI)b IVS17bTA IVS17bCA TUB18 (HinfI) Q1463 (Tsp509I) J3.11 (MspI) CF families: African American: Bal236: 3120ϩ1GrA 1 1 2 2 1 17 (2) 1 2 (2) 7 17 (2) 2 1 DF508 1 1 2 2 1 17 (1) 1 1 (1) 31 13 (1) 1 1 Bal719: 3120ϩ1GrA 1 1 2 2 1 17 2 1 (2) 2 7 17 2 2 1 DF508 1 1 2 2 1 17 1 1 (1) 1 32 13 1 1 1 Bal962: 3120ϩ1GrA 1 (1) (2) (2) (1) 17 2 1 2 (2) (7) (17) (2) (2) ) 405ϩ3ArC 1 (2) (1) (1) (2) 16 2 1 2 (1) (31) (13) (1) (1) ) Bal963: 3120ϩ1GrA (1) 1 2 2 1 (17) (2) 1 (2) (2) (7) (17) (2) (2) ) DF508 (2) 1 2 2 1 (23) (1) 1 (1) (1) (31) (13) (1) (1) ) Bal964: 3120ϩ1GrA 1 1 2 2 1 17 (2) 1 (2) (2) (7) (17) (2) (2) 1 DF508 1 1 2 2 1 17 (1) 1 (1) (1) (31) (13) (1) (1) 1 Bal965: 3120ϩ1GrA 1 1 2 2 1 (17) (2) 1 (2) (2) (7) (17) (2) (2) ) DF508 1 1 2 2 1 (23) (1) 1 (1) (1) (31) (13) (1) (1) ) Saudi Arabian: CF10: 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 2 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 2 CF16: 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 3120ϩ1GrA 1 1 2 1 17 2 1 2 2 7 17 2 2 1 CF46: 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 Greek: CF17: 3120ϩ1GrA 2 2 2 2 1 16 2 1 2 2 7 17 2 2 1 1497delGG 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 CF541: 3120ϩ1GrA 2 2 (2) (2) (1) 16 2 (1) (2) (2) 7 (17) (2) (2) 1 711ϩ3ArG 1 2 (1) (1) (2) 16 2 (2) (1) (1) 33 (13) (1) (1) 2 CF294: 3120ϩ1GrA ) ) (2) (2) (1) 16 2 (1) (2) (2) 7 (17) (2) (2) ) 296ϩ1GrC ) ) (1) (1) (2) 16 2 (2) (1) (1) 31 (13) (1) (1) ) Native African: IM: 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 CL: 3120ϩ1GrA 1 1 2 2 1 17 2 1 2 2 7 17 2 2 1 G1249E 1 1 2 2 1 16 2 1 1 1 22 16 1 1 2 MC1: 3120ϩ1GrA ) 1 ) ) 1 17 ) 1 (2) ) 7 17 2 ) ) 3196del54 ) 1 ) ) 1 16 ) 1 (1) ) 7 17 2 ) ) MC2: 3120ϩ1GrA ) 1 ) 2 1 17 ) 1 (2) ) 7 17 (2) ) ) 2183delAA ) 2 ) 2 2 16 ) 1 (1) ) 21 16 (1) ) ) M1115: 3120ϩ1GrA 1 1 ) 2 1 17 ) 1 2 2 7 17 2 ) ) DF508 1 1 ) 2 1 23 ) 1 1 1 34 14 1 ) ) African carriers: SABL1: 3120ϩ1GrA 1 ) (2) (2) (1) (17) 2 1 2 (2) (7) (17) (2) (2) ) Non-CF 1 ) (1) (1) (2) (16) 2 1 2 (1) (33) (13) (1) (1) ) SABL2: 3120é1GrA 1 ) 2 2 1 (17) 2 1 (2) (2) (7) (17) (2) (2) ) Non-CF 1 ) 2 2 1 (16) 2 1 (1) (1) (34) (13) (1) (1) ) (continued) (continued) GROUP AND MUTATIONS HAPLOTYPE a MetH (MspI) XV2c (TaqI) CS.7 (HhaI) KM.19 (PstI) J44 (XbaI) IVS8CA TUB9 (MnlI) M470 (HphI) T854 (AvaII) TUB15 (NsiI)b IVS17bTA IVS17bCA TUB18 (HinfI) Q1463 (Tsp509I) J3.11 (MspI) SABL3: 3120ϩ1GrA 1 ) 2 2 1 (17) (2) 1 (2) (2) (7) (17) (2) 2 ) Non-CF 1 ) 2 2 1 (23) (1) 1 (1) (1) (19) (22) (1) 2 ) SABL4: 3120ϩ1GrA 1 1 2 2 1 (17) (2) 1 2 (2) (7) (17) (2) 2 2 Non-CF 1 1 2 2 1 (19) (1) 1 2 (1) (20) (16) (1) 2 2 SABL5: 3120ϩ1GrA 1 ) 2 2 1 (17) (2) 1 (2) (2) (7) (17) (2) (2) 1 Non-CF 1 ) 2 2 1 (19) (1) 1 (1) (1) (35) (13) (1) (1) 1 SABL6: 3120ϩ1GrA 1 ) 2 2 1 (17) 2 1 (2) (2) (7) (17) (2) (2) ) Non-CF 1 ) 2 2 1 (16) 2 1 (1) (1) (30) (13) (1) (1) ) SABL7: 3120ϩ1GrA 1 ) 2 2 (1) 17 (2) 1 (2) (2) (7) (17) (2) 2 ) Non-CF 1 ) 2 2 (2) 17 (1) 1 (1) (1) (19) (19) (1) 2 ) SABL8: 3120ϩ1GrA 1 1 2 2 (1) 17 2 1 2 (2) 7 (17) (2) (2) ) Non-CF 1 1 2 2 (2) 17 2 1 2 (1) 7 (18) (1) (1) )) NOTE.-Microsatellite analysis was perf40ormed as described (Morral et al. 1993), except that fluorescein-labeled forward primers were used and the products were analyzed on an ALF sequencer (Pharmacia). Login to comment 63 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* This study demonstrates that the 3120ϩ1GrA mutation shares the same extragenic CS.7-KM.19 "risk" haplotype with the other frequent and ancient CF mutations-DF508, N1303K, and G542X (Do¨rk et al. 1992; Morral et al. 1993)-but that it differs from these latter mutations with respect to intragenic CFTR markers. Login to comment