Linked Life Data

17050329

Source:http://linkedlifedata.com/resource/pubmed/id/17050329

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-10-19
pubmed:abstractText
Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. In this study, we examined the clinical and cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in sixty patients with bilateral absence of vas deferens that applied to andrology clinic due to male factor infertility. Urogenital anomalies of vas deferens, seminal vesicle and epididymis were detected in our patient group. CFTR gene mutations, which are known to be frequent among cystic fibrosis patients, could not be detected in our patient group with that high frequency. Delta F508 mutations were detected in only 6% of patients. IVS8 polyT alleles were positive in 68% of patients. No 1677delTA mutations and M470V variants were detected in our patient group. However, sperm retrieval is almost always possible from CBAVD patients; secondary pathologies may also result defective spermatogenesis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0148-5016
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
471-7
pubmed:meshHeading
pubmed:articleTitle
Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD).
pubmed:affiliation
Department of Medical Biology, Faculty of Medicine, Afyon Kocatepe University, Afyon, Turkey.
pubmed:publicationType
Journal Article