CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure

Han-Sun Chiang, Chien Chih Wu, Yi No Wu, Jyh Feng Lu, Gin Hong Lin, Jiann-Loung Hwang

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had ΔF508 and p.L375F mutations. The two children were heterozygous for the Δ508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling.

Original languageEnglish
Pages (from-to)736-740
Number of pages5
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Volume107
Issue number9
DOIs
Publication statusPublished - Sep 2008

Fingerprint

Cystic Fibrosis Transmembrane Conductance Regulator
Intracytoplasmic Sperm Injections
Fathers
Mothers
Regulator Genes
Mutation
Cystic Fibrosis
Denaturing Gradient Gel Electrophoresis
Genetic Counseling
DNA Sequence Analysis
Congenital bilateral aplasia of vas deferens
DNA

Keywords

  • CFTR mutation
  • Congenital bilateral absence of the vas deferens
  • Cystic fibrosis
  • Intracytoplasmic single sperm injection
  • Vas deferens

ASJC Scopus subject areas

  • Medicine(all)

Cite this

CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure. / Chiang, Han-Sun; Wu, Chien Chih; Wu, Yi No; Lu, Jyh Feng; Lin, Gin Hong; Hwang, Jiann-Loung.

In: Journal of the Formosan Medical Association = Taiwan yi zhi, Vol. 107, No. 9, 09.2008, p. 736-740.

Research output: Contribution to journalArticle

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abstract = "Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had ΔF508 and p.L375F mutations. The two children were heterozygous for the Δ508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling.",
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AB - Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had ΔF508 and p.L375F mutations. The two children were heterozygous for the Δ508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling.

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