ABCMdb

PMID: 7505692

Osborne LR, Lynch M, Middleton PG, Alton EW, Geddes DM, Pryor JP, Hodson ME, Santis GK
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
Hum Mol Genet. 1993 Oct;2(10):1605-9., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Arg347His Only one subject (genotype AF508/R347H) had a history of upper and lower respiratory symptoms from childhood. Login to comment 25 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg1070Gln Nasal potential difference, sweat sodium concentration and CF genotype in subjects with CBAVD, CF patients and controls CF genotype Control cohort CBAVD cohort CF cohort N/N« AF5O8/R347H SM9N/R1070Q AF508/Other R553X/N*> Unknown/Unknowtf AF 5«/AF5O8 AFjQj/Other AF508/R347P AF50e/G542X AFjQg/RllTH AF5O8/G85E AF5Q8/R553X AFJO8/G551D AF5O8A^520F AFJO8/S549N AF^/DIjQ, N1303K/Other G542X/R117H AFJ08/R334W Other/Other Subjects 50 1 1 1 6 1 16 25 18 3 2 1 1 1 2 1 1 1 3 1 1 3 Mean (range) sweat Na+ concentration (mmol/1) 50 (27-78) 88 N/A 94 57 (47-70) 36 49 (32-76) 126(80-162) 99 (80-128) 108 (99-115) 128 (118-137) 95 107 130 122 (116-128) 90 80 118 96 (92-99) 84 123 108(83-130) Mean (range) nasal potential difference (-mV) 21 (8-30) 31 N/A 34 23 (13-29) -15 20 (-13-28) 45 (32-58) 41 (33-61) 50 (36-77) 43 (33-52) 51 42 39 60 (50-71) 32 37 41 38 (36-40) 32 34 44(31-57) N = non-CF chromosome Other = uncharacterised CF chromosome N/A not available • with CF carrier frequency of 1/20-1/25, it is likely that 2 or 3 of these individuals will be carriers. Login to comment 33 ABCC7 p.Arg553* Using dsDNA cycle sequencing, one subject carrying the R553X mutation and two compound heterozygotes for known CFTR mutations were identified (Table 1). Login to comment 34 ABCC7 p.Arg347His ABCC7 p.Ser549Asn ABCC7 p.Arg1070Gln One of these was a British Caucasian whose genotype was AFJ08/R347H and the second, a Pakistani Asian, was heterozygous for the S549N and R1070Q mutations (Table 1). Login to comment 38 ABCC7 p.Arg553* Error bars indicate standard deviation of the mean. Control v CBAVD: NS. CBAVD v PS: p<0.0001. CBAVD v PI: p<0.0001. CBAVD subjects who were heterozygous for a known CF mutation (6 AFjQg/N and 1 R553X/N). Login to comment 47 ABCC7 p.Arg553* In the CBAVD group, the top two and the bottom values are from subjects with only one CF gene mutation (2 AFyjg/N and 1 R553X/N) and the remainder from subjects with no identified CF mutations. Login to comment 55 ABCC7 p.Arg553* RNA studies By RT-PCR of lymphocyte RNA, the whole of the CFTR coding region was amplified in different overlapping fragments in 10 CBAVD subjects (6 AFjO8/N, 1 R553X/N and 3 Unknown/Unknown), 5 CF patients and 5 controls. Login to comment 58 ABCC7 p.Arg347His The 2 subjects with elevated sweat sodium (AF5Og/R347H and AF^/Other) also had elevated nasal PD (Table 1). Login to comment 63 ABCC7 p.Arg347His As expected, the two subjects with elevated sweat sodium concentrations and elevated basal nasal PD (AF508/R347H and AF^/Other) had nasal PD responses to amiloride and low chloride solutions that were comparable to those found in patients with CF. Login to comment 116 ABCC7 p.Gly551Asp ABCC7 p.Gly542* DNA studies Genomk DNA from subjects with CBAVD was extracted from whole blood and initially analysed for four common CFTR mutations (AFjog, G551D, G542X and 621 + 1 G-T) using the amplification refractory mutation system (ARMS, Cellmark Diagnostics UK)29 . Login to comment