IDENTIFICATION OF A NOVEL δ-GLOBIN GENE MUTATION IN AN IRANIAN FAMILY

被引：6

作者：

Amirian, Azam ^{[1
]}

Jafarinejad, Masoomeh ^{[1
]}

Kordafshari, Alireza R. ^{[1
]}

Mosayyebzadeh, Marjan ^{[1
]}

Karimipoor, Morteza ^{[1
]}

Zeinali, Sirous ^{[1
,2
]}

机构：

[1] Pasteur Inst Iran, Biotechnol Res Ctr, Dept Mol Med, Tehran, Iran

[2] Kawsar Genom & Biotech Ctr, Kawsar Human Genet Res Ctr, Tehran, Iran

来源：

HEMOGLOBIN | 2010年 / 34卷 / 06期

关键词：

delta-Thalassemia (delta-thal); delta IVS-I-5 (G > T); Hb A(2)-Fitzroy; Iran; POLYMERASE CHAIN-REACTION; PRENATAL-DIAGNOSIS; GREEK CYPRIOTS; THALASSEMIA; DNA;

D O I：

10.3109/03630269.2010.528323

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

delta-Thalassemia (delta-thal) has no clinical symptoms, but its coinheritance with beta-thal may cause misdiagnosis, especially in countries with a high prevalence of beta-thal where prevention programs have been implemented. The molecular basis of most beta-thal syndromes have been defined, while the spectrum of mutations causing delta-thal have not been well characterized. A couple was referred to us for thalassemia molecular screening. Since she had rather low values of Hb A(2) and normal Hb F, her delta-globin gene was amplified and directly sequenced. We found two different mutations on her delta-globin genes: HBD: c.92+5G > T/HBD:c.428C > A. The c. 92+5G > T mutation has not been previously reported. Two different mutations in trans may explain the reduced Hb A(2) level.

引用

页码：594 / 598

页数：5

共 11 条

[1] [Anonymous], 2001, THALASSAEMIA SYNDROM
[2] The IVS-II-1 (G → A) β0-thalassemia mutation in cis with HbA2-Troodos [δ116(G18)Arg → Cys (CGC → TGC)] causes a complex prenatal diagnosis in an Iranian family
Eram, SM
Azimifar, B
Abolghasemi, H
Foulady, P
Lotfi, V
Masrouri, M
Hosseini, M
Abdolhosseini, A
Zeinali, S
[J]. HEMOGLOBIN, 2005, 29 (04) : 289 - 292
[3] HUISMAN THJ, 1977, HEMOGLOBINOPATHIES T, V6
[4] KO TM, 1992, HUM GENET, V88, P245
[5] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS
MILLER, SA
DYKES, DD
POLESKY, HF
[J]. NUCLEIC ACIDS RESEARCH, 1988, 16 (03) : 1215 - 1215
[6] HOMOZYGOUS DELTA-THALASSEMIA IN JAPAN
OHTA, Y
YASUKAWA, M
SAITO, S
FUJITA, S
KOBAYASHI, Y
[J]. HEMOGLOBIN, 1980, 4 (3-4) : 417 - 425
[7] HOMOZYGOUS DELTA-THALASSEMIA FIRST DISCOVERED IN JAPANESE FAMILY WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
OHTA, Y
YAMAOKA, K
SUMIDA, I
FUJITA, S
FUJIMURA, T
YANASE, T
[J]. BLOOD-THE JOURNAL OF HEMATOLOGY, 1971, 37 (06): : 706 - &
[8] PIRASTU M, 1983, BLOOD, V62, P341
[9] ANALYSIS OF DELTA-GLOBIN GENE-MUTATIONS IN GREEK CYPRIOTS
TRIFILLIS, P
KYRRI, A
KALOGIROU, E
KOKKOFITOU, A
IOANNOU, P
SCHWARTZ, E
SURREY, S
[J]. BLOOD, 1993, 82 (05) : 1647 - 1651
[10] TRIFILLIS P, 1991, BLOOD, V78, P3298

← 1 2 →