SICKLE-CELL DISEASE IN A BRAZILIAN POPULATION FROM SAO-PAULO - A STUDY OF THE BETA(S) HAPLOTYPES

Authors
GONCALVES MS NECHTMAN JF FIGUEIRERDO MS KERBAUY J ARRUDA VR SONATI MF SAAD SOT COSTA FF STOMING TA
Citation
Ms. Goncalves et al., SICKLE-CELL DISEASE IN A BRAZILIAN POPULATION FROM SAO-PAULO - A STUDY OF THE BETA(S) HAPLOTYPES, Human heredity, 44(6), 1994, pp. 322-327
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
44
Issue
6
Year of publication
1994
Pages
322 - 327
Database
ISI
SICI code
0001-5652(1994)44:6<322:SDIABP>2.0.ZU;2-0
Abstract
In this study we have determined the frequency of beta(s) haplotypes i n a Brazilian sickle cell disease population from Sao Paulo, Brazil, b y analyzing sequence variations in the immediate 5' flanking and secon d intervening sequence (IVSII) regions of the gamma globin genes. This association between sequence differences and beta(s) haplotype backgr ounds was determined by screening genomic DNA samples using dot blot a nalysis of polymerase chain reaction products. We studied 148 beta(s) chromosomes, and found that haplotype 20 (CAR or Bantu) signif icantly predominated in this population. This is in agreement with the findin gs of the historical Portuguese Atlantic slave