Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms.

Molecular basis of β-thalassemia in the United Arab Emirates.

In an attempt to define the prevalence of β-thalassemia (β-thal) in the United Arab Emirates (UAE), we have conducted molecular studies on nearly 2000 randomly-selected adult UAE nationals. The results demonstrated that the prevalence of β-globin gene defects in the UAE was 8.5%.

α-Thalassemia syndromes in the United Arab Emirates.

α-Thalassemia (α-thal) is usually due to deletions within the α-globin gene cluster, leading to loss of function of one or both α-globin genes. α-Thalassemia is prevalent in the Arabian Peninsula, particularly in the United Arab Emirates (UAE) and Saudi Arabia. There are no large-scale reports regarding the prevalence of α-thal in the Arabian populations apart from sporadic surveys in the mid-1980s on red cell indices from Saudi Arabia and a more recent study from Kuwait.

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions.

Background: alpha-Thalassemia is a worldwide disease and considered to be a major public health problem in countries within the so-called thalassemia belt. The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations.

Methods: We developed and validated a reverse-hybridization assay (Alpha-Globin StripAssay) for the rapid and simultaneous detection of 21 alpha-globin mutations: two single gene deletions (-alpha(3.

The cypriot and Iranian National Mutation Frequency Databases.

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.