Study Of CFTR Gene Mutations And Testicular Ultrastructure And ICSI Of Congenital Obstructive Azoospermia

This paper is composed of the following three parts:PARTâ… :Study of cystic fibrosis transmembrane conductance regulator(CFTR)gene mutations on congenital obstructive azoospermiaObjectivesCongenital obstructive azoospermia includes congenital bilateral absence of the vas deferens(CBAVD), congenital unilateral absence of the vas deferens(CUAVD), malformations of the epididymis and ejaculatory duct obstruction. But CBAVD and CUAVD are common , accounting for 1%-2% in male infertility, 10%-20% in obstructive azoospermia.Recently, the mutations of CFER gene in exons and intron-exon splicing regions have been detected in infertile men with CBAVD but no other manifestations of cystic fibrosis(CF), Results reveal 50% to 82% of men with CBAVD have at least 1 detectable CFTR gene mutations, and that approximately 10% have 2 detectable CFTR gene mutations. 89% of men with CBAVD, who had a non-iatrogenic occlusion of the contralateral vas at either the inguinal or pelvic level, had at least 1 detectable CFTR gene mutations. So CBAVD and CUAVD have been regarded as a milder form of CF.Cystic fibrosis (CF) is the most common serious autosomal recessive disorder in the population, with an approximately 1 /2500 live births and a carrier frequency of 1/25persons among populations of Northern European descent, Clinical hallmarks of CF include chronic pulmonary obstruction and infections, pancreatic exocrine deficiency, neonatal meconium ileus,elevated sweat electrolytes.CFTR gene lies on the long arm(q31) of chromosome 7, The gene locus spanned about 250kb, cDNA sequence spans 6129 base pairs in size and encodes a polypeptide...