Manga N, Jenkins T, Jackson H, Whittaker D A, Lane A B
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
J Inherit Metab Dis. 1999 Feb;22(1):37-42. doi: 10.1023/a:1005491014280.
Transferase galactosaemia is an autosomal recessively inherited disorder caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Manifestations include jaundice, vomiting, cataracts, mental retardation, speech abnormalities and poor growth. The GALT gene has been mapped and sequenced. The S135L mutation accounts for approximately 48% of galactosaemia alleles in African Americans and has been found to account for about 91% of galactosaemia alleles in negroid South African patients which suggested that the mutation had an African origin. We have calculated the S135L allele frequency (+/- 1SE) in a sample of healthy unrelated negroid South Africans to be 0.0067 (+/- 0.0024). The S135L mutation was also detected in negroid populations from other regions of Africa confirming its African origin.
半乳糖血症转移酶缺乏症是一种常染色体隐性遗传疾病，由1-磷酸半乳糖尿苷转移酶（GALT）缺乏引起。其症状包括黄疸、呕吐、白内障、智力迟钝、言语异常和生长发育迟缓。GALT基因已被定位和测序。S135L突变在非裔美国人的半乳糖血症等位基因中约占48%，在南非黑人半乳糖血症患者中约占91%，这表明该突变起源于非洲。我们计算了一组健康无亲缘关系的南非黑人样本中S135L等位基因频率（±1个标准误）为0.0067（±0.0024）。在非洲其他地区的黑人人群中也检测到了S135L突变，证实了其非洲起源。
