Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients.
Gene
; 765: 145045, 2021 Jan 10.
Article
en En
| MEDLINE
| ID: mdl-32777524
ABSTRACT
To find the variant spectrum of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and evaluate its frequent variants in Chinese congenital absence of vas deferens (CAVD) patients. A total of 276 patients with azoospermia and CAVD (aged from 21 to 44â¯years old) were investigated from May 2013 to September 2019 in the Third Affiliated Hospital of Sun Yat-sen University. Additionally, 50 healthy, unrelated volunteers were recruited as controls (aged from 21 to 46â¯years old). The 5'-UTR, exons and their flanking side of the CFTR gene were sequenced by high-throughput sequencing technology. The results were compared with those retrieved from the Ensembl Genome Browser. In addition, all 13 novel variants were further confirmed independently by Sanger sequencing and evaluated in the bioinformatics web servers. A schematic of the variant spectrum of the CFTR gene, including 13 novel variants (12 in CAVD patients, one in the control group), is shown, and the frequent variants in Chinese CAVD patients were 5â¯T (27.54%), c.-8Gâ¯>â¯C (7.25%), p.Q1352H (5.98%), and p.I556V (3.08%). 5â¯T was found to be the most frequent variant. p.Q1352H had a significantly high allelic frequency in CAVD patients (Pâ¯<â¯0.05). c.-8Gâ¯>â¯C and p.I556V had high allelic frequencies but showed no difference between patients and controls (Pâ¯>â¯0.05). p.Q1352H is the most common and important missense variant in Chinese patients with CAVD, while the pathological effects of C.-8Gâ¯>â¯C and p.I556V may be weak after evaluation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Conducto Deferente
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Enfermedades Urogenitales Masculinas
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Gene
Año:
2021
Tipo del documento:
Article
País de afiliación:
China