Avtor/Urednik		Svetina, Nataša
Naslov		Mutacijska analiza gena CFTR pri različnih oblikah moške neplodnosti in pri bolnikih s kroničnim pankreatisom v slovenski populaciji
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Univerza v Ljubljani, Medicinska fakulteta
Leto izdaje		2000
Obseg		str. 62
Jezik		slo
Abstrakt		Cystic fibrosis (CF) is one of the most common fatal autosomal recessive hereditary disease in Caucasian population, with a carrier frequency of 1 in 25, and with a disease frequency of approximately 1 in 2000 live-born children. CF affects tissues that produce mucus, these are airway, gastriontestinal tract, pancreatic and hepatobiliary ducts, liver and male urogenital tract. Severe classical form of CF is characterized by elevated sweat electrolyte levels, chronic sinopulmonary disease, and pancreatic insufficiency. Approximately 95 % of men with CF are infertile due to the congenital bilateral absence of the vas deferens (CBAVD). The gene responsible for CF (Cystic Fibrosis Transmembrane conductance Regulator - CFTR) was cloned and characterized in 1989. Almost 900 different mutations have been identified in CFTR gene of patients affected with CF. The most common mutation in CFTR protein is a deletion of phenylalanine at position 508 (F508). This deletion is present in 68 % of CF chromosomes worldwide. Due to many known diseases (neonatal meconium ileus, liver cirrhosis, bilateral and unilateral absence of the vas deferens, as well as diabetes, pancreatitis, and Crohn's disease), which share some clinical features with CF, researchers started to study the involvement of alterations in CFTR gene in these diseases. One of first such connections was discovered in 1992, when it was found out that aproximatelly 70 % of otherwise healthy men but infertile due to CBAVD had mutations in the CFTR gene. There were studies that confirmed but also denied the involvement of CFTR gene in male infertility in the beginning of our research in 1997. In the Department of obstetrics and Gynecology in Ljubljana a ICSI (Intracytoplasmic Sperm Injection) methode was applied in 1995. So we wanted to clarify the involvement of CFTR gene in infertile men who were indicated for ICSI methode. (Abstract truncated at 2000 characters).
Deskriptorji		INFERTILITY, MALE PANCREATITIS CYSTIC FIBROSIS CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR OLIGOSPERMIA EXONS POLYMERASE CHAIN REACTION POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL NUCLEIC ACID HETERODUPLEXES ELECTROPHORESIS, POLYACRYLAMIDE GEL