Long Term Optimisation of F8 Gene Mutation Screening by DHPLC

2005 ◽  
pp. 341-343
Author(s):  
C. Klein ◽  
H. Singer ◽  
M. Lim-Eimer ◽  
M. Watzka ◽  
V. Ivaskevicius ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

2008 ◽  
Vol 83 (6) ◽  
pp. 630-638 ◽  
Author(s):  
Iacopo Olivotto ◽  
Francesca Girolami ◽  
Michael J. Ackerman ◽  
Stefano Nistri ◽  
J. Martijn Bos ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Protein Gene ◽  
Mutation Screening

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.

Glucokinase Gene Mutation Screening in Argentinean Clinically Characterized MODY Patients

2009 ◽  
Vol 117 (08) ◽  
pp. 391-394 ◽  
Author(s):  
A. Lopez ◽  
S. Foscaldi ◽  
M. Pérez ◽  
G. Krochik ◽  
M. Rodríguez ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Glucokinase Gene

POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?

2017 ◽  
Vol 27 ◽  
pp. S140
Author(s):  
R. Rossi ◽  
C. Scotton ◽  
P. Barton ◽  
R. Buchan ◽  
R. Walsh ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Mutation Load ◽  
Load Effect

Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 94S-99S ◽  
Author(s):  
Hidekane Yoshimura ◽  
Chie Oshikawa ◽  
Jun Nakayama ◽  
Hideaki Moteki ◽  
Shin-ichi Usami
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Usher Syndrome ◽  
Japanese Patients ◽  
Pathogenic Mutation ◽  
Clinical Findings ◽  
Syndrome Type ◽  
Asian Populations ◽  
Type 3 ◽  
Usher Syndrome Type

Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.

Gene mutation screening using whole exome sequencing in lipid storage myopathy

2015 ◽  
Vol 25 ◽  
pp. S204
Author(s):  
K. Takayama ◽  
S. Mitsuhashi ◽  
I. Nonaka ◽  
S. Noguchi ◽  
I. Nishino
Keyword(s):  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Mutation Screening ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Whole Exome
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