PMID: 21762191

Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami-Ben Hamida A, Feki-Chakroun N, Bahloul A, Fakhfakh F, Ammar-Keskes L
Screening of DeltaF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD.
Andrologia. 2011 Jul 18. doi: 10.1111/j.1439-0272.2011.01193.x., 2011-07-18 [PubMed]
Sentences
No. Mutations Sentence Comment
91 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 21762191:91:936
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 21762191:91:938
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 21762191:91:946
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 21762191:91:948
status: NEW
view ABCC7 p.Gly542* details
Table 2 Genotype frequencies of IVS8-polyT tract variants in infertile men and controls IVS8-polyT genotype frequencies (%) 5T/5T 7T/7T 9T/9T All infertile patients (n = 129) 1.55 69.76 4.65 Azoospermia (n = 57) 3.50 73.68 5.26 Oligospermia (n = 39) 0 71.79 5.12 Normospermia (n = 33) 0 60.60 3.03 Controls (n = 54) 0 59.25 3.70 Table 3 Microdeleted STSs and IVS8-polyT genotype in patients with Y chromosome microdeletions (n = 7) Number of microdeleted patients Y chromosome microdeleted AZF loci and STSs IVS8-polyT genotype in CFTR gene Azoospermia (n = 57) 1 AZFa (SY86) 9T/9T 1 AZFa (SY84) 7T/7T Oligospermia (n = 48) 1 AZFa (SY86) 9T/9T 1 AZFa (SY86) 7T/7T 1 AZFa (SY84) 7T/7T 1 AZFa + b (SY86 + SY134) 7T/7T Normospermia (n = 43) 1 AZFc (SY254) 7T/7T patients (Boucher et al., 1999); it also agrees with data reported by Tuerlings et al. (1998) showing no increase in 5T allele and in three frequent CFTR mutations (deltaF508, A455E and G542X) among patients with oligozoospermia. Login to comment