Linked Life Data

8582970

Source:http://linkedlifedata.com/resource/pubmed/id/8582970

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1996-3-19
pubmed:abstractText
A total of 21 infertile men with congenital unilateral absence of the vas deferens (CUAVD) were studied to determine if this disorder involves mutations in the cystic fibrosis (CF) gene. This hypothesis derives from previous work which has established the genetic commonality of CF and congenital bilateral absence of the vas deferens (CBAVD). Both CF and CBAVD may result from compound heterozygosity for CF mutations. In our patients with unilateral vasal aplasia, 12 had anatomically complete and patent vasa deferentia on the contralateral side, i.e. side of the scrotally palpable vas. No CF mutations were detected in this subgroup. The remaining nine patients had a non-iatrogenic occlusion of the contralateral vas at either the inguinal or pelvic level. In this subgroup, eight out of nine (89%) had a mutation detected in one of their two CF genes. This is the first study to define accurately the clinically and anatomically heterogeneous nature of CUAVD and to begin to clarify the genetic basis of unilateral absence of the vas deferens.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0268-1161
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1728-35
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.
pubmed:affiliation
Department of Biology, Boston University, MA 02118, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't