PMID: 490584Aug 1, 1979Paper

Gaucher's disease in South Africa

Journal of Medical Genetics
J Goldblatt, P Beighton

Abstract

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.

References

Jan 1, 1971·Journal of Chronic Diseases·R A Meals
Nov 1, 1964·Neurology·B Q BANKERM VICTOR
Feb 22, 2012·Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : NEPJOPH·S NarangJ Kaur

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Citations

Sep 1, 1979·Archives of Disease in Childhood·P HodsonP Beighton
Dec 1, 1990·Journal of Medical Genetics·T Jenkins
May 31, 2002·The British Journal of Radiology·M MaasM R Terk
May 31, 2002·The British Journal of Radiology·L W PollN J Weinreb
Sep 1, 1984·The British Journal of Dermatology·J Goldblatt, P Beighton
Feb 1, 1985·British Journal of Obstetrics and Gynaecology·J Goldblatt, P Beighton
Apr 16, 2011·PloS One·John Paul Schmidt, John M Drake
May 3, 1996·American Journal of Medical Genetics·P Beighton
Dec 1, 1989·American Journal of Medical Genetics·H C SeftelD Mendelsohn
Aug 1, 1996·Clinical Genetics·B Morar, A B Lane

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