ABCMdb

PMID: 7539210

Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman YM, Brautbar C, Levinson D, et al.
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
Am J Hum Genet. 1995 Jun;56(6):1359-66., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Ser549Ile ABCC7 p.Trp1089* The entire studied group of males with CBAVD was tested for 16 CFTR mutations, using DNA-PCR amplification (Saiki et al. 1985, 1988), followed by specific tests as described elsewhere: AF508 (Rommens et al. 1990); W1282X (Shoshani et al. 1992a); G542X, S549R, S549I, and 1717-1G-+A, by direct sequencing of exon 11, using oligonucleotide primers (Zielenski et al. 1991b); N1303K (Osborne et al. 1991); 3849+10Kb C&-T (Highsmith et al. 1994); W1089X and 4010delTATT (Shoshani et al. Login to comment 39 ABCC7 p.Gly85Glu 1994a); G85E (Zielenski et al. Login to comment 40 ABCC7 p.Asp1152His ABCC7 p.Thr360Lys ABCC7 p.Gln359Lys 1991a); D1152H (W. E. Highsmith, personal communication); 405+1G>A (Dork et al. 1993); Q359K/ T360K (Shoshani et al. Login to comment 41 ABCC7 p.Asp1270His ABCC7 p.Thr360Lys ABCC7 p.Gln359Lys 1992b); and D1270H (Anguiano et al. 1992). Login to comment 42 ABCC7 p.Arg117His ABCC7 p.Asp1270His The R117H mutation (Dean et al. Login to comment 43 ABCC7 p.Arg117His The R117H mutation (Dean et al. Login to comment 45 ABCC7 p.Arg117His The PCR product with the R117H mutation has an HaeII site, while the normal allele does not. Login to comment 46 ABCC7 p.Arg117His The PCR product with the R117H mutation has an HaeII site, while the normal allele does not. Login to comment 58 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Ile ABCC7 p.Asp1152His ABCC7 p.Trp1089* Mutation Analysis Fourteen CF-R mutations that were elsewhere identified among the Israeli CF patient population (Kerem et al. 1994) were analyzed: W1282X, AF508, N1303K, G542X, 3849+10Kb C--T, S549R, S549I, W1089X, 4010delTATT, G85E, 1717-1G--A, D1152H, 405+1G--A, and Q359K1T360K. Login to comment 59 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Ile ABCC7 p.Asp1152His ABCC7 p.Trp1089* Mutation Analysis Fourteen CF-R mutations that were elsewhere identified among the Israeli CF patient population (Kerem et al. 1994) were analyzed: W1282X, AF508, N1303K, G542X, 3849+10Kb C--T, S549R, S549I, W1089X, 4010delTATT, G85E, 1717-1G--A, D1152H, 405+1G--A, and Q359K1T360K. Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Asp1270His In addition, the mutations R117H and D1270H, previously found in CBAVD patients from other populations (Anguiano et al. 1992), were analyzed. Login to comment 61 ABCC7 p.Arg117His ABCC7 p.Asp1270His In addition, the mutations R117H and D1270H, previously found in CBAVD patients from other populations (Anguiano et al. 1992), were analyzed. Login to comment 65 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His Each family had at least one male with CBAVD and one brother Table I CFTR Mutations and Haplotypes in Israeli Patients with CBAVD CFTR HAPLOTYPESb CFTR ETHNIC ORIGIN AND PATIENT MUTATIONSa XV2C/KM19C GATT TUB18 24M XV2C/KM19c GATT TUB18 24M Ashkenazi Jews: 104-1, 104-10, 610 ................. N1303K/N B 2 1 2 A 1 1 2 613, 645,635 ......................... AF508/N B 2 1 2 C 1 12 643 ......... ............... W1282X/R117H B 1 2 1 C 1 1 2 609,611,615,620,642 ......... W1282X/N B 1 2 1 C 1 1 2 631 ......... ............... W1282X/N B 1 2 1 A 1 1 2 630 ......... ............... D1152H/D1152H C 1 1 2 C 1 1 2 633 ......... ............... D1152H/D1152H D 1 1 2 D 1 1 2 612 ......... ............... N/N B 1 2 1 D 1 2 1 632 ......... ............... N/N B (2) 1 2 A (1) 1 2 640 ......... ............... N/N A/B 2 1 2 D/C 2 1 2 614,624 ........................ N/N A 1 1 2 C 1 12 616 ......... ............... N/N A 1 (2) 2 C 1 (1) 2 644 ........................ N/N A 1 1 (1)C 1 1 (2) 605,636 ........................ N/N C 1 1 2 C 1 12 Non-Ashkenazi Jews: 602 ......... ............... AF508/R117H B 2 1 2 B 1 1 2 604 ........................ AFS08/N B 2 1 2 C 2 2 1 629 ........................A AF508/N B 2 1 2 C 1 1 2 608 ......... ............... N/N B (2) 1 1 D (1) 1 2 628-1, 628-4 ........................ N/N B 2 1 2 C 1 1 2 625,637 ........................ N/N C 1 1 2 C 1 12 603-1, 603-4 ........................ N/N A 2 2 1 A 2 2 1 Arabs: 627 ......... ............... D1152H/D1152H C 1 1 2 C 1 1 2 626, 607-1 ........................ N/N C 1 1 2 C 1 1 2 607-4, 638 ........................ N/N A 1 1 2 C 1 1 2 639 ......... ............... N/N B/A 1 (2) (1) C/D 1 (1) (2) a The data in the column "CFTR mutations" are in the same order (left to right) as in the column "CFRT haplotypes." Login to comment 66 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His Each family had at least one male with CBAVD and one brother Table I CFTR Mutations and Haplotypes in Israeli Patients with CBAVD CFTR HAPLOTYPESb CFTR ETHNIC ORIGIN AND PATIENT MUTATIONSa XV2C/KM19C GATT TUB18 24M XV2C/KM19c GATT TUB18 24M Ashkenazi Jews: 104-1, 104-10, 610 ................. N1303K/N B 2 1 2 A 1 1 2 613, 645,635 ......................... AF508/N B 2 1 2 C 1 1 2 643 ......... ............... W1282X/R117H B 1 2 1 C 1 1 2 609,611,615,620,642 ......... W1282X/N B 1 2 1 C 1 1 2 631 ......... ............... W1282X/N B 1 2 1 A 1 1 2 630 ......... ............... D1152H/D1152H C 1 1 2 C 1 1 2 633 ......... ............... D1152H/D1152H D 1 1 2 D 1 1 2 612 ......... ............... N/N B 1 2 1 D 1 2 1 632 ......... ............... N/N B (2) 1 2 A (1) 1 2 640 ......... ............... N/N A/B 2 1 2 D/C 2 1 2 614,624 ........................ N/N A 1 1 2 C 1 1 2 616 ......... ............... N/N A 1 (2) 2 C 1 (1) 2 644 ........................ N/N A 1 1 (1) C 1 1 (2) 605,636 ........................ N/N C 1 1 2 C 1 1 2 Non-Ashkenazi Jews: 602 ......... ............... AF508/R117H B 2 1 2 B 1 1 2 604 ........................ AFS08/N B 2 1 2 C 2 2 1 629 ........................A AF508/N B 2 1 2 C 1 1 2 608 ......... ............... N/N B (2) 1 1 D (1) 1 2 628-1, 628-4 ........................ N/N B 2 1 2 C 1 1 2 625,637 ........................ N/N C 1 1 2 C 1 1 2 603-1, 603-4 ........................ N/N A 2 2 1 A 2 2 1 Arabs: 627 ......... ............... D1152H/D1152H C 1 1 2 C 1 1 2 626, 607-1 ........................ N/N C 1 1 2 C 1 1 2 607-4, 638 ........................ N/N A 1 1 2 C 1 1 2 639 ......... ............... N/N B/A 1 (2) (1) C/D 1 (1) (2) a The data in the column "CFTR mutations" are in the same order (left to right) as in the column "CFRT haplotypes." Login to comment 83 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His The infertile brother and one of his fertile brothers (626-10) inherited the same two CFTR alleles determined by the Table 2 Haplotype Analysis of Families with CBAVD BROTHERS WITH CBAVD FERTILE BROTHERS CFTR HAPLOTYPES CFTR CFTR CFTrR FAMILY MUTATIONS Father Mother No. Haplotypes No. Haplotypes 104 ......... N1303K/N B 21-1--12 5 =a A 12-1--12 3 = c 2 aa/c 2 aa/d C 12-1--12 4 = b A 12-1--21 5 = d b/d 610 ......... N1303K/N B 2111-212 4 = a A 2221- 212 4 = c 2 aa/c 2 aa/d A 1221-511 10 = b B 1221-212 3 = d b/c 645 ......... AF508/N - 1------- - a B 2-----12 3 = c 1 b/ca 1 b/d C 1-----12 5=b - 1------- 10=d 627 ......... D1152H/D1152H C 1-21--12 3 = a C 1-21--12 4 = c 1 aa/ca 2 b/d C 1-21--12 7= b A 1-21--12 4 =d 630 ......... D1152H/D1152H C 1----- 12 1 =a C 1----- 12 - =c 1 aa/ca 1 aa or ca/d - -------- - b - -- 2=d 628 ......... N/N B 2--15-12 4 = a C 1--15-12 3 =c 2 a/c 1 a/d B 1--22-22 1 = b B 2--25-12 4= d 603 ......... N/N A 21123121 4 = a A 21123121 4=c 2 a or b/dor c 1 a or b/dor c A 21123521 4 = b A 21123521 4 = d 644 ......... N/N A 1----- 11 4 = a C 1----- 12 6=c 1 a/c 1 a/d C 1------- 9=b B -------- 6=d 636 ......... N/N C 1------2 4=a C 1------2 3=c 1 a/c 1 c/d A 2------2 4 =b A 1------2 11 = d NOTE.-The polymorphic sites are as in figs. Login to comment 84 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His The infertile brother and one of his fertile brothers (626-10) inherited the same two CFTR alleles determined by the Table 2 Haplotype Analysis of Families with CBAVD BROTHERS WITH CBAVD FERTILE BROTHERS CFTR HAPLOTYPES CFTR CFTR CFTrR FAMILY MUTATIONS Father Mother No. Haplotypes No. Haplotypes 104 ......... N1303K/N B 21-1--12 5 =a A 12-1--12 3 = c 2 aa/c 2 aa/d C 12-1--12 4 = b A 12-1--21 5 = d b/d 610 ......... N1303K/N B 2111-212 4 = a A 2221- 212 4 = c 2 aa/c 2 aa/d A 1221-511 10 = b B 1221-212 3 = d b/c 645 ......... AF508/N - 1------- - a B 2-----12 3 = c 1 b/ca 1 b/d C 1-----12 5=b - 1------- 10=d 627 ......... D1152H/D1152H C 1-21--12 3 = a C 1-21--12 4 = c 1 aa/ca 2 b/d C 1-21--12 7= b A 1-21--12 4 =d 630 ......... D1152H/D1152H C 1----- 12 1 =a C 1----- 12 - =c 1 aa/ca 1 aa or ca/d - -------- - b - -- 2=d 628 ......... N/N B 2--15-12 4 = a C 1--15-12 3 =c 2 a/c 1 a/d B 1--22-22 1 = b B 2--25-12 4= d 603 ......... N/N A 21123121 4 = a A 21123121 4=c 2 a or b/dor c 1 a or b/dor c A 21123521 4 = b A 21123521 4 = d 644 ......... N/N A 1----- 11 4 = a C 1----- 12 6=c 1 a/c 1 a/d C 1------- 9=b B -------- 6=d 636 ......... N/N C 1------2 4=a C 1------2 3=c 1 a/c 1 c/d A 2------2 4 =b A 1------2 11 = d NOTE.-The polymorphic sites are as in figs. Login to comment 103 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His Five mutations-AF508, W1282X, N1303K, D1152H, and R117H-were identified. Login to comment 104 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His The AF508, W1282X, and N1303K mutations were found on chromosomes carrying the same haplotype as previously found in chromosomes of CF patients carrying these mutations (Sereth et al. 1993). Login to comment 105 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys The R117H mutation 626 XV2C KM19 GAir M470V a: 1525-61A/G F T854T 'L IVS17B CA 0 TUB18 24M W30 I121 2 2 .2 2 2 2 1 1 1 1 2 1 1 1 1 2 2 1 ;2 11 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 2 2 2 22 2 2 2 1 1 1 1 1 1 1 1 1 222 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 12 5 5 5 5 55 55 55 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 3 72 4 7 U4 7 U4 7 2 3 2 3 4 3 2 3 2 3 4 3 ;U4 Figure 2 Haplotype analysis of the CFTR locus in pedigree 626. Login to comment 106 ABCC7 p.Arg117His The R117H mutation 626 XV2C KM19 GAir M470V a: 1525-61A/G F T854T 'L IVS17B CA 0 TUB18 24M W30 I121 2 2 .2 2 2 2 1 1 1 1 2 1 1 1 1 2 2 1 ;2 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 2 2 2 22 2 2 2 1 1 1 1 1 1 1 1 1 222 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 12 5 5 5 5 55 55 55 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 3 7 2 4 7 U4 7 U4 7 2 3 2 3 4 3 2 3 2 3 4 3 ;U4 Figure 2 Haplotype analysis of the CFTR locus in pedigree 626. Login to comment 107 ABCC7 p.Asp1152His The D1152H mutation was found on two different haplotypes, C,1,1,2 and D,1,1,2. Login to comment 109 ABCC7 p.Asp1152His The D1152H mutation was found on two different haplotypes, C,1,1,2 and D,1,1,2. Login to comment