臺灣先天性兩側無輸精管病患是否需要在人工協助生殖技術前施行CFTR基因檢測

10.6666/ClinMed.201809_82(3).0098

黃奕燊

先天性兩側無輸精管(congenital bilateral absence of vas deferens, CBAVD) ； 囊狀纖維化跨膜傳導調節因子(cystic fibrosis transmembrane conductance regulator, CFTR) ； 囊狀纖維化(cystic fibrosis, CF)

臨床醫學月刊

82卷3期（2018 / 09 / 28）

540 - 542

繁體中文

在臺灣先天性雙側輸精管缺失(CBAVD)病患多為囊腫性纖維化基因(CFTR)輕微變異型而臨床表現不會造成肺或腸胃道症狀。臺灣人常見的基因變異型為Arg117His及Intron 8 5T allele，而帶原機率於一般人為1/118，計算結果子代男性為先天性雙側輸精管缺失機率小於0.1%，因此不建議人工協助生殖技術前施行CFTR基因檢測。

1. Chu, CS,Trapnell, BC,Curristin, S(1993).Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.Nat Genet,3,151-156.
2. Claustres, M(2005).Molecular pathology of the CFTR locus in male infertility.Reprod Biomed Online,10,14-41.
3. Claustres, M,Guittard, C,Bozon, D(2000).Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France.Hum Mutat,16,143-156.
4. Cuppens, H,Lin, W,Jaspers, M(1998).Polyvariant mutant cystic fibrosistransmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.J Clin Invest,101,487-496.
5. Kerem, B,Rommens, JM,Buchanan, JA(1989).Identification of the cystic fibrosis gene: genetic analysis.Science,245,1073-1080.
6. Ratjen, F,Döring, G(2003).Cystic fibrosis.Lancet,361,681-689.
7. Riordan, JR,Rommens, JM,Kerem, B(1989).Identification of the cystic fibrosis gene: cloning and characterizationof complementary DNA.Science,245,1066-1073.
8. Schulz, S,Jakubiczka, S,Kropf, S(2006).Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.FertilSteril,85,135-138.
9. Sosnay, PR,Siklosi, KR,Van Goor, F(2013).Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Nat Genet,45,1160-1167.
10. Wu, CC,Alper, OM,Lu, JF(2005).Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.Hum Reprod,20,2470-2475.
11. Wu, CC,Hsieh-Li, HM,Lin, YM(2004).Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens.Hum Reprod,19,250-253.
12. Wu, CL,Shu, SG,Zielenski, J(2000).Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.J Formos Med Assoc,99,564-567.