ABCMdb

PMID: 16581722

Bertuzzo CS, Pinto W
Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens.
Hum Fertil (Camb). 2006 Mar;9(1):53-6., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Arg117His The mutation R117H was found in patients 12, 23, 24, 34 and 39, with patient 12 presenting both alleles with this mutation and IVS8- 7T status. Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Arg1162* Patient CFTR mutation found 1 AG DF508/IVS8-5T 5 AG DF508/IVS8-5T 6 AG DF508 IVS8-5T 7 AG DF508/IVS8-5T 8 AG DF508/IVS8-5T 9 AG DF508/IVS8-5T 12 AG R117H/R117H 16 AG DF508/R1162X 18 AG N1303K/R1162X 21 AG DF508/IVS8-5T 23 AG R347H/R117H 24 AG N1303K/R117H 25 AG DF508/W1282X 27 AG N1303K/IVS8-5T 29 AG DF508/IVS8-5T 30 AG N1303K/W1282X 32 AG DF508/IVS8-5T 34 AG R347H/R117H 36 AG DF508/N1303K 38 AG IVS8-5T/IVS8-5T 39 AG DF508/R117H 40 AG DF508/N1303K Concerning the most prevalent mutation in our study, DF508, we found a higher proportion in our patients than that found in Argentine patients (Levy et al., 2004), 35% vs. 20.8%. Login to comment 57 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* When we compared the mutations detected by the present study with those found in fibrocystic patients in our region, we verify that among fibrocystics the most frequent mutations are: DF508, G542X, G551D, R553X and N1303K (Bernardino et al., 2000; Martins et al., 1993; Raskin et al., 1999), while in the present study they were the DF508, IVS8-5T, R117H and N1303K. Login to comment 59 ABCC7 p.Asn1303Lys Both the DF508 and the N1303K mutations, which are concordant in the two groups of patients, occur at different frequencies. Login to comment 60 ABCC7 p.Asn1303Lys The DF508 has a prevalence of around 52% among fibrocystics (Raskin et al., 1999), compared to 32% in the present study (w2 (1) ¼ 4.46; P ¼ 0.034), while the N1303K mutation has a 2.3% prevalence in fibrocystics (Raskin et al., 1999), compared to 14% in our sample (w2 (1) ¼ 6.04; P ¼ 0.014). Login to comment