ABCMdb

PMID: 7680525

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
Am J Hum Genet. 1993 Mar;52(3):609-15., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Met1101Lys M1101K appears to have originated on an uncommon CFTR allele and to be infrequent outside the Hutterite population. Login to comment 31 ABCC7 p.Met1101Lys We also infer that a CFTR intragenic crossover occurred which resulted in two haplotypes harboring the M1101K mutation. Login to comment 71 ABCC7 p.Met1101Lys All CF mutations were identified in patients from the 16 Hutterite CF families: 22/32 (69%) CF chromosomes carried M1101K, and the remaining 10/32 (31%) carried AF508. Login to comment 88 ABCC7 p.Met1101Lys M1101K appears to be rare outside the Hutterite population, because the mutation has not been found after screening 328 other CF CFTR GENE I i ~~~~~100 AF508 t 150 M101K t 200 250 kb 6b 14b 17b Exon 1 2 3 4 6a 9 10 11 14a 17a 19 20 21 24 J44/Xbal (CA)n (TA)n 3601-65 (C or A) (GATT)n 2694 (T or G) 1898+152 (T or A) 1525-61 (A or G) 1716 (G orA) 1540 (AorG) Figure 2 Locations of the AF508 and MllOlK mutations and the polymorphisms used in the haplotype analysis of two Hutterite families (for details, see text and fig. 3). Login to comment 91 ABCC7 p.Met1101Lys ABCC7 p.Met1101Lys ABCC7 p.Met1101Lys a b c H K M N metD/Taql metHfTaql XV-2c/Taql KM.1 9/PstI J44/Xbal (GATT)n (CA)n 1525-61 (A or G) 1540 (A or G) AF508 1716 (G or A) 1898+152 (T or A) 2694 (T or G) M1101K (TA)n 3601-65 (C or A) 1 6 17 1 1 AF508 2 1 1 N 32 1 1 J3.11/MspI I| I 1 | a/N 2 7 17 2 2 N 2 1 1 M1101K 29 1 LI2 1 K/b 1 7 16 2 1 N 1 2 2 M1101K 29 1 LI2I] 2 7 16 2 2 N 2 1 1 N 30 1 1IL 1 1 1 7 7 7 16 15 16 2 2 2 1 1 1 N N N 2 2 2 2 2 2 2 2 2 N N N 7 7 7 2 1 2 2 LII] r1L II [III b/M H/c a/K N/K N/b a/b M / H M/c b/c Figure 3 CF (a, b, and c) and normal (H, K, M, and N) haplotypes in two Hutterite families. Login to comment