Shah R R, Evans D A, Oates N S, Idle J R, Smith R L
J Med Genet. 1985 Oct;22(5):361-6. doi: 10.1136/jmg.22.5.361.
Previously published results of phenformin 4-hydroxylation in 195 unrelated white British volunteers and 87 family members of 27 randomly selected probands have been subjected to genetic analysis. The results clearly show that about 9% of this population has a genetically determined defect in carrying out this oxidation reaction. The character for the defect is inherited in a Mendelian autosomal recessive fashion. The polymorphism shows a substantial degree of dominance.
先前已发表了对195名无亲属关系的英国白人志愿者以及27名随机挑选的先证者的87名家庭成员进行苯乙双胍4-羟基化反应的研究结果,并已进行了遗传分析。结果清楚地表明,该人群中约9%的个体在进行这种氧化反应时存在基因决定的缺陷。该缺陷性状以孟德尔常染色体隐性方式遗传。这种多态性表现出相当程度的显性。