Abstract:
:Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Yusoff NM,Van Rostenberghe H,Shirakawa T,Nishiyama K,Amin N,Darus Z,Zainal N,Isa N,Nozu H,Matsuo Mdoi
10.1007/s10038-003-0095-2keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
650-653issue
12eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-003-0095-2journal_volume
48pub_type
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