OBJECTIVE: To examine the frequency of @entity12108 and the frequency of mutations of the @entity1577 transmembrane regulator ( @entity5174 ) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. DESIGN: The clinical data for male candidates for ICSI were studied. The three most frequent @entity1577 ( @entity1577 )-causing @entity5174 mutations in the Dutch population (deltaF508, @entity69513 , and @entity21761 ) and the three most frequent @entity5174 mutations potentially causing @entity12108 ( @entity12108 ) in the Dutch population (deltaF508, @entity21760 , and IVS8-5T) were analyzed. Delta I507 is also detected by the deltaF508 test. Samples of DNA from @entity1 identified as @entity5174 mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. SETTING: University-based center for reproductive medicine and clinical genetics. @entity1 (S): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. INTERVENTION(S): Semen and blood samples were collected from the @entity1 at their first visit to the clinic. MAIN OUTCOME MEASURE(S): Frequency of @entity12108 and frequency of mutations of the @entity5174 gene in male candidates for ICSI who had oligoasthenoteratozoospermia. RESULT(S): None of the @entity1 had @entity12108 at physical examination. In 4 of the 150 chromosomes (75 @entity1 ), a @entity5174 mutation was found, yielding a @entity5174 mutation frequency of 2.7% (95% confidence interval, 1.0-6.7%). None of the @entity1 had two @entity5174 mutations. CONCLUSION(S): The frequency of @entity154 in @entity1 with oligoasthenoteratozoospermia is low. The frequencies of the @entity5174 mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.

Mutation frequency of XXXX transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.

@entity1 :: ('9606', 'Species') :: ['patients', 'PATIENT'] @entity154 :: ('MESH:D000013', 'Disease') :: ['congenital abnormalities of the vas deferens'] @entity5174 :: ('1080', 'Gene') :: ['CFTR'] @entity21761 :: ('p|SUB|G|542|X', 'ProteinMutation') :: ['G542X'] @entity21760 :: ('p|SUB|R|117|H', 'ProteinMutation') :: ['R117H'] @entity12108 :: ('MESH:C535984', 'Disease') :: ['CBAVD', 'congenital bilateral absence of the vas deferens', 'anomalies of the vas deferens', 'abnormalities of the vas deferens'] @entity69513 :: ('p|SUB|A|455|E', 'ProteinMutation') :: ['A455E'] @entity1577 :: ('MESH:D003550', 'Disease') :: ['CF', 'cystic fibrosis']
@entity1577 :: (MESH:D003550,Disease) :: ['cystic fibrosis']
