Goldblatt J, Beighton P
J Med Genet. 1979 Aug;16(4):302-5. doi: 10.1136/jmg.16.4.302.
The adult non-neuropathic form of Gaucher's disease has been identified in 32 patients in 25 Ashkenazi Jewish kindreds in South Africa. The minimum prevalence in this population is 1 in 5000, with a gene frequency of 0.014 and a carrier rate of 1 in 36. On correction for bias resulting from possible under-ascertainment, these minimum figures become 1 in 4000, 0.0166, and 1 in 30, respectively. Confirmation of autosomal recessive inheritance was obtained by segregation analysis by the 'a priori' and 'simple sib' methods. The Ashkenazin of South Africa have their origins in Lithuania and it is evident that the high gene frequency in South Africa is a reflection of the genetic constitution of the immigrant population. The localisation of the Gaucher gene to Lithuania represents a further step in the determination of the early geographic distribution of the genetic disorders of the Jewish race.
在南非25个阿什肯纳兹犹太家族中，已确认有32名患者患有成人非神经性戈谢病。该人群中的最低患病率为1/5000，基因频率为0.014，携带者频率为1/36。校正可能因漏查导致的偏差后，这些最低数字分别变为1/4000、0.0166和1/30。通过“先验”和“简单同胞”方法进行的分离分析证实了常染色体隐性遗传。南非的阿什肯纳兹人起源于立陶宛，很明显，南非的高基因频率反映了移民群体的基因构成。将戈谢基因定位到立陶宛是确定犹太种族遗传性疾病早期地理分布的又一步骤。
