The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease severity and allele frequency, a population screening for individuals of this ancestry is warranted in order to allow prenatal, or preimplantation diagnosis.
亚甲基四氢叶酸还原酶（MTHFR）缺乏症是一种罕见的常染色体隐性遗传病。在两名具有犹太布哈拉血统的非相关儿童中发现了一种新型纯合 MTHFR c.474A>T（p.G158G）突变。该突变导致异常剪接和提前终止密码子。在非相关健康的布哈拉犹太人中，确定了 1:39 的携带频率（5/196）。鉴于疾病的严重程度和等位基因频率，应对具有这种遗传背景的个体进行人群筛查，以便进行产前或着床前诊断。
