South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan

Ovalositosis Asia Tenggara (SAO) tersebar luas di kalangan kumpulankumpulan etnik di Malaysia, Papua New Guinea, Filipina, Indonesia dan Thailand. Individu-individu heterozigus yang terkesan daripadanya tidak menunjukkan simptosimptom tertentu tetapi satu penemuan yang baru telah menunjukkan bahawa...

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Main Author:	Abdullah, Salimah
Format:	Thesis
Language:	English
Published:	2002
Subjects:	RB Pathology
Online Access:	http://eprints.usm.my/36353/1/Dr_Salimah_Abdullah_-_TNM_%28NN24%29.pdf
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id	my-usm-ep.36353
record_format	uketd_dc
spelling	my-usm-ep.363532017-08-30T04:00:08Z South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan 2002 Abdullah, Salimah RB Pathology Ovalositosis Asia Tenggara (SAO) tersebar luas di kalangan kumpulankumpulan etnik di Malaysia, Papua New Guinea, Filipina, Indonesia dan Thailand. Individu-individu heterozigus yang terkesan daripadanya tidak menunjukkan simptosimptom tertentu tetapi satu penemuan yang baru telah menunjukkan bahawa individu-individu yang berkaitan telah menunjukkan kesan-kesan hemolisis dan pertambahan kandungan bilirubin di dalam aliran darah. Punca di peringkat molekular adalah disebabkan oleh kewujudan deletan 27 pasangan bes pada gen band 3 di kromoson 17. Gen ini juga disebut gen anion-exchanger 1 (gen AE 1) dan basil proteinnya yang berfungsi sebagai pengangkut anion-anion membran, contohnya klorida dan bikarbonat. Exspresi protin band 3 juga terdapat pada eritrosit dan sel-sel alfa (a)- interkalasi yang terdapat di tubuh liku distal pada ginjal. Southeast Asian Ovalocytosis (SAO) is widespread in certain ethnic groups of Malaysia, Papua New Guinea, Philippines, Indonesia and Thailand. Affected heterozygous individuals are asymptomatic but a recent paper indicates that in some cases individuals present with signs of increasing haemolysis and hyperbilirubinaemia. The underlying molecular defect is due to the presence of a 27-bp deletion of the band 3 gene on chromosom 17. This gene is also described as anion-exchanger 1 gene (AE1 gene) and its protein product serves as a membrane transporter of anion, namely chlorides (Cl} and bicarbonates (HC03 ). Band 3 protein is also expressed in the alpha (a)- intercalated cells of the tubules in the kidney. 2002 Thesis http://eprints.usm.my/36353/ http://eprints.usm.my/36353/1/Dr_Salimah_Abdullah_-_TNM_%28NN24%29.pdf application/pdf en public masters Universiti Sains Malaysia Pusat Pengajian Sains Perubatan (School of Medical Sciences)
institution	Universiti Sains Malaysia
collection	USM Institutional Repository
language	English
topic	RB Pathology
spellingShingle	RB Pathology Abdullah, Salimah South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
description	Ovalositosis Asia Tenggara (SAO) tersebar luas di kalangan kumpulankumpulan etnik di Malaysia, Papua New Guinea, Filipina, Indonesia dan Thailand. Individu-individu heterozigus yang terkesan daripadanya tidak menunjukkan simptosimptom tertentu tetapi satu penemuan yang baru telah menunjukkan bahawa individu-individu yang berkaitan telah menunjukkan kesan-kesan hemolisis dan pertambahan kandungan bilirubin di dalam aliran darah. Punca di peringkat molekular adalah disebabkan oleh kewujudan deletan 27 pasangan bes pada gen band 3 di kromoson 17. Gen ini juga disebut gen anion-exchanger 1 (gen AE 1) dan basil proteinnya yang berfungsi sebagai pengangkut anion-anion membran, contohnya klorida dan bikarbonat. Exspresi protin band 3 juga terdapat pada eritrosit dan sel-sel alfa (a)- interkalasi yang terdapat di tubuh liku distal pada ginjal. Southeast Asian Ovalocytosis (SAO) is widespread in certain ethnic groups of Malaysia, Papua New Guinea, Philippines, Indonesia and Thailand. Affected heterozygous individuals are asymptomatic but a recent paper indicates that in some cases individuals present with signs of increasing haemolysis and hyperbilirubinaemia. The underlying molecular defect is due to the presence of a 27-bp deletion of the band 3 gene on chromosom 17. This gene is also described as anion-exchanger 1 gene (AE1 gene) and its protein product serves as a membrane transporter of anion, namely chlorides (Cl} and bicarbonates (HC03 ). Band 3 protein is also expressed in the alpha (a)- intercalated cells of the tubules in the kidney.
format	Thesis
qualification_level	Master's degree
author	Abdullah, Salimah
author_facet	Abdullah, Salimah
author_sort	Abdullah, Salimah
title	South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
title_short	South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
title_full	South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
title_fullStr	South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
title_full_unstemmed	South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan
title_sort	south east asian ovalocytosis associated with band 3 gene deletion in malay neonates in kelantan
granting_institution	Universiti Sains Malaysia
granting_department	Pusat Pengajian Sains Perubatan (School of Medical Sciences)
publishDate	2002
url	http://eprints.usm.my/36353/1/Dr_Salimah_Abdullah_-_TNM_%28NN24%29.pdf
_version_	1747820630975184896

South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan

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