Identification of five rare mutations including a novel frameshift mutation causing β0-thalassemia in Thai patients with β0-thalassemia/hemoglobin E disease

ชื่อเรื่อง

Identification of five rare mutations including a novel frameshift mutation causing β0-thalassemia in Thai patients with β0-thalassemia/hemoglobin E disease See all items with this value

ผู้สร้าง/เจ้าของผลงาน

Winichagoon, Pranee See all items with this value

Fucharoen, Suthat
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Wilairat, Prapon
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Chihara, Kazuo
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Fukumaki, Yasuyuki
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Wasi, Prawase See all items with this value

หัวเรื่อง

Molecular Biology
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Molecular Medicine See all items with this value

คำอธิบายรายละเอียดของเอกสาร

This research was supported in part by EEC grant TS 2. 0131. TH (H), U.S. Public Health Research Grant HL 34408 and by grants from the Ministry of Education, Science and
Culture, Japan.

บทคัดย่อ

6 out of 14 uncharacterized β-thalassemia alleles from 187 Thai β-thalassemia/HbE patients were identified by direct sequencing of DNA amplified by polymerase chain reaction. A novel mutation occuring from an insertion of adenosine in codon 95, which results in a shift of the reading frame with the terminator at the new codon 101, was detected in one patient. In addition, two frameshift mutations not previously reported among the Thai population were also detected in 3 patients: one with a deletion of thymidine in codon 15 and two with an insertion of cytidine in codons 27/28. A frameshift mutation that occurred from a cytidine deletion in codon 41 was also found in one patient in this study. The remaining case was as amber mutation, GAG-TAG, in codon 43 in exon 2 of the β-globin gene. These mutations bring the number of mutations known to be present in the Thai population to a total of 20, 15 of which were detected in β-thalassemia/HbE patients.

ผู้ร่วมงาน

Thalassemia Center, Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital See all items with this value

Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan See all items with this value

Department of Biochemistry, Faculty of Science, Mahidol University See all items with this value

ICMR Kobe University School of Medicine, Kobe, Japan
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ปีที่ผลิตเอกสาร

1992 See all items with this value

วันที่บันทึกข้อมูล

2023-05-02

ประเภท

Article See all items with this value

รูปแบบ

pdf See all items with this value

ขนาดหรือจำนวนของเอกสาร

7 pages

ต้นฉบับ/แหล่งที่มาของเอกสาร

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1139, issue 4, page 280-286

ภาษา

en See all items with this value

รหัส หรือตัวบ่งชี้เอกสาร

https://doi.org/10.1016/0925-4439(92)90101-R See all items with this value

ขอบเขต

Health See all items with this value

เจ้าของลิขสิทธิ์

Elsevier B.V. See all items with this value

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