Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher in malaria endemic areas. first-time assessment molecular characterization mutations the Lao Theung population were performed this study. Methods A total 252 unrelated participants residing People’s Democratic Republic (PDR) recruited. All participant samples tested for enzyme activity gene mutations...

Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

ERCC5 plays crucial role in excision repair DNA damage induced by UV in NER pathway. Single neuleotide polymorphism in ERCC5 were responsible for different cancers.Therefore, current study evaluated the relationship between ERCC5 (rs1047768 T>C) polymorphism and the risk of breast cancer in Pakistani population. The rs1047768 polymorphism was screened among 175 female...

Background: Lithium is a therapeutic option for the treatment of the acute phase of the bipolar disorder and long-term management of this disorder. However,  it  is  estimated  that  10  to  60%  of  patients  do  not  properly response to this medication. Methods: To investigate the role of MARK2 gene in response to lithium, we genotyped the MARK2 rs10792421 polymorphism in Iranian bipolar pa...

BACKGROUND We aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (SCT) and α(thal)/β(thal) mutations in south and south central of Iran. METHOD We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. All subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain...

In this study, the closely linked fluorescence molecular marker PM-Xa7 of  Xa7  gene was developed on basis of sequence difference between resistant variety ‘IRBB7’ containing   and other nine bacterial blight susceptible rice varieties, and combine with PARMS technology (Penta-primer amplification refractory mutation system). Genotypes  were identified in 7...

Aim-To develop a rapid, simple and highly specific DNA screening procedure based on the amplification refractory mutation system (ARMS) to detect the Leiden mutation in whole blood.Methods-ARMS PCR amplification primers with additional mismatches at either -2 or -3, which greatly improves specificity, were constructed to detect the normal Factor V gene and the Leiden mutation in whole blood sam...

ERCC5 plays crucial role in excision repair DNA damage induced by UV in NER pathway. Single neuleotide polymorphism in ERCC5 were responsible for different cancers.Therefore, current study evaluated the relationship between ERCC5 (rs1047768 T>C) polymorphism and the risk of breast cancer in Pakistani population. The rs1047768 polymorphism was screened among 175 female...