Ramsbottom D, Scott J M, Molloy A, Weir D G, Kirke P N, Mills J L, Gallagher P M, Whitehead A S
Department of Genetics, Trinity College, Dublin, Ireland.
Clin Genet. 1997 Jan;51(1):39-42. doi: 10.1111/j.1399-0004.1997.tb02412.x.
Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of NTDs is also known to have both genetic and nutritional components. We therefore examined the frequency of relatively common mutations in the enzyme cystathionine beta-synthase (CBS), which is one of the main enzymes that controls Hcy levels, in the NTD population. Neither the severely dysfunctional G307S CBS allele nor the recently reported 68 bp insertion/I278T CBS allele was observed at increased frequency in the cases relative to controls. We therefore conclude that loss of function CBS alleles do not account for a significant proportion of NTDs in Ireland.
最近在一些神经管缺陷（NTD）妊娠中观察到母体血浆同型半胱氨酸（Hcy）水平轻度升高（高同型半胱氨酸血症）。Hcy的血浆水平受遗传和营养因素的共同控制，并且已知NTD的病因也具有遗传和营养成分。因此，我们检测了NTD人群中胱硫醚β-合酶（CBS）（控制Hcy水平的主要酶之一）相对常见突变的频率。与对照组相比，在病例中未观察到严重功能失调的G307S CBS等位基因或最近报道的68 bp插入/I278T CBS等位基因频率增加。因此，我们得出结论，功能丧失的CBS等位基因在爱尔兰NTD中所占比例不高。
