Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown.

Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types.

Prenatal Screening for Rare Co-Inheritance of HbE and β-Thalassaemia Traits in Western India.

The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing.

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

Background: β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors.

Purpose: The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management.