Gallagher P M, Naughten E, Hanson N Q, Schwichtenberg K, Bignell M, Yuan M, Ward P, Yap S, Whitehead A S, Tsai M Y
Neuropathology Department, Beaumont Hospital, Dublin, 9, Ireland.
Mol Genet Metab. 1998 Dec;65(4):298-302. doi: 10.1006/mgme.1998.2771.
We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being found in 3 of 37 independent alleles.
我们使用单链构象多态性和核苷酸测序技术，对18例独立的爱尔兰同型胱氨酸尿症患者中存在缺陷的胱硫醚β合酶基因等位基因进行了特征分析。检测到6种突变，其中3种先前已有报道，3种为新发现的突变。新发现的突变包括T302C（L101P）、C684G（N228K）和G1063C（A354P）。在这3种突变中，只有T302C（L101P）较为常见，在37个独立等位基因中有3个出现该突变。
