scholarly journals Optimization of Pyrosequencing Method to Detect IVS1-NT5 ß-Globin Gene Mutation in ß-Thalassemia

2017 ◽  
Vol 10 (2) ◽  
pp. 96-102
Author(s):  
Ani Melani Maskoen ◽  
Dina Sofiana ◽  
Lelani Reniarti
Keyword(s):  
Gene Mutation ◽  
Globin Gene ◽  
Pyrosequencing Method

KRAS gene mutation in a series of unselected colorectal carcinoma patients with prognostic morphological correlations: A pyrosequencing method improved by nested PCR

2015 ◽  
Vol 98 (3) ◽  
pp. 563-567 ◽  
Author(s):  
Mariana Petaccia de Macêdo ◽  
Fernanda Machado de Melo ◽  
Bianca Cristina Garcia Lisboa ◽  
Louise D. Brot Andrade ◽  
Maria Dirlei Ferreira de Souza Begnami ◽  
...  
Keyword(s):  
Colorectal Carcinoma ◽  
Gene Mutation ◽  
Nested Pcr ◽  
Kras Gene ◽  
Pyrosequencing Method

Hb DARTMOUTH [α66(E15)Leu → Pro (α2) (CTG → CCG)]: A NOVEL α2-GLOBIN GENE MUTATION ASSOCIATED WITH SEVERE NEONATAL ANEMIA WHEN INHERITED IN TRANS WITH SOUTHEAST ASIAN α-THALASSEMIA-1

Hemoglobin ◽  
2001 ◽  
Vol 25 (4) ◽  
pp. 375-382 ◽  
Author(s):  
Kim L. McBride ◽  
Karen Snow ◽  
Kathleen S. Kubik ◽  
Virgil F. Fairbanks ◽  
James D. Hoyer ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Globin Gene ◽  
Southeast Asian ◽  
In Trans

Haplotype Analysis in Carriers of β-globin Gene Mutation Facilitates Genetic Counseling in β-thalassemia: A Cross-Sectional Study in Kerman Province, Iran

2020 ◽  
Author(s):  
Nasrollah SALEH-GOHARI ◽  
Kolsoum SAEIDI ◽  
Sima ZIAADINI-DASHTKHAKI
Keyword(s):  
Genetic Counseling ◽  
Gene Mutation ◽  
Haplotype Analysis ◽  
Globin Gene ◽  
Mutation Screening ◽  
Hypochromic Anemia ◽  
Cross Sectional Study ◽  
Common Mutation ◽  
Sectional Study ◽  
Cross Sectional

Background: β-thalassemia is characterized by reduced synthesis of the hemoglobin beta chain that results in microcytic hypochromic anemia and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. β-thalassemias are caused by mutations in the β-globin gene, inherited in an autosomal recessive manner. Determining molecular defects in couples carrying β-thalassemia is a prerequisite for prenatal diagnosis of the disease. In this regards, database of β-globin gene haplotypes facilitates mutation detection of the gene and helps genetic counselors to reach the goals of β-thalassemia prevention program. Methods: In this cross-sectional study, 255 couples attended genetic counseling between December 2017 and January 2019 in Afzalipour Hospital, Kerman University of Medical Scinces, Kerman, Iran as suspicious of βthalassemia carriers. Furthermore, they were investigated using amplification refractory mutations system-polymerase chain reaction and restriction fragment length polymorphism methods for mutation screening and haplotype analysis of polymorphic sites in β-globin gene cluster, respectively. Results: We identified 20 different types of β-globin gene mutation in 449 β-thalassemia carriers. Analysis of the pattern of Hind III/Gγ, Hinf I/5′β, Hinc II/3′Ψβ, Rsa I/5′β, AvaII/β and Hind III/Aγ polymorphic sites in 257 alleles of informative families revealed 17 different haplotypes. Haplotype 1 (77.24%) showed strong linkage with the most common mutation IVSI-5 while haplotype 5 (66.67%) was associated with the second frequent mutation IVSII-1. Conclusion: To our knowledge, these β-globin haplotypes are reported for the first time which are different with those found in other parts of Iran. The current haplotypes pattern data makes the counseling of β-thalassemia carriers more straightforward and the process of mutation screening faster and more accurate.

De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander

Hemoglobin ◽  
1994 ◽  
Vol 18 (6) ◽  
pp. 441-443
Author(s):  
J. S. Waye ◽  
M. Patterson ◽  
B. Eng
Keyword(s):  
Gene Mutation ◽  
Globin Gene

A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC

2012 ◽  
Vol 34 (5) ◽  
pp. 556-558 ◽  
Author(s):  
E. S. EDISON ◽  
M. SATHYA ◽  
S. V. RAJKUMAR ◽  
S. C. NAIR ◽  
A. SRIVASTAVA ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Globin Gene ◽  
Hemoglobin Variant

scholarly journals Alpha‐globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran

2019 ◽  
Vol 34 (1) ◽  
Author(s):  
Seyed Mohammad Bagher Hashemi‐Soteh ◽  
Hossein Karami ◽  
Seyed Saeid Mousavi ◽  
Touraj Farazmandfar ◽  
Ahmad Tamadoni
Keyword(s):  
Gene Mutation ◽  
Globin Gene ◽  
Hypochromic Anemia ◽  
Mutation Spectrum ◽  
Mazandaran Province ◽  
Alpha Globin
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