Microarray Technology for Mutation Analysis of Low-Template DNA Samples

Salvado, Chelsea Loree; Cram, David S.

doi:10.1007/978-1-59745-298-4_13

Cited by 6 publications

(1 citation statement)

References 47 publications

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“…Microarrays containing oligonucleotide mutation probes are emerging as useful platforms for the diagnosis of genetic disease. Further automation of part of this technique will enable a greater number of diseases to be accurately diagnosed at the single cell level [11]. …”

Section: Introductionmentioning

confidence: 99%

Preimplantation genetic diagnosis in Saudi Arabia

Abotalib

2013

Bioinformation

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Preimplantation genetic diagnosis (PGD) testing is the practice of obtaining a cellular biopsy sample from a developing human oocyte or embryo, acquired via a cycle of in vitro fertilization (IVF); evaluating the genetic composition of this sample; and using this information to determine which embryos will be optimal for subsequent uterine transfer. PGD has become an increasingly useful adjunct to IVF procedures. The ability to provide couples who are known carriers of genetic abnormalities the opportunity to deliver healthy babies has opened a new frontier in reproductive medicine. The purpose of the PGD is enables us to choose which embryos will be implanted into the mother. In the present study 137 families who had undergone IVF at Habib Medical Centre, were enrolled for the PGD analysis. The couple visited the clinic for the sex selection, recurrent fetal loss and with the recurrent IVF failure. 802 embryos were tested by the biopsy method and 512 are found to be normal and 290 were abnormal embryos. In this study only 24% of the embryos were transferred and the remaining was not transferred because of the abnormalities or undesired sex of the embryos. The structural and numerical abnormalities were found to be 16.8%.

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Section: Introductionmentioning

confidence: 99%

Preimplantation genetic diagnosis in Saudi Arabia

Abotalib

2013

Bioinformation

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Genetic Predisposition to β-Thalassemia and Sickle Cell Anemia in Turkey: A Molecular Diagnostic Approach

Başak

2010

Methods in Molecular Biology

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The thalassemia syndromes are a diverse group of inherited disorders that can be characterized according to their insufficient synthesis or absent production of one or more of the globin chains. They are classified in to α, β, γ, δβ, δ, and εγδβ thalassemias depending on the globin chain(s) affected. The β-thalassemias refer to that group of inherited hemoglobin disorders, which are characterized by a reduced synthesis (β(+)-thalassemia) or absence (β(0)-thalassemia) of beta globin (β-globin) chain production (1). Though known as single-gene disorders, hemoglobinopathies such as β-thalassemia and sickle cell anemia are far from being fully resolved in terms of cure, considering the less complex nature of the beta globin (β-globin) gene family compared to more complex multifactorial genetic disorders such as cancer. Currently, there are no definitive therapeutic options for patients with β-thalassemia and sickle cell anemia, and new insights into the pathogenesis of these devastating diseases are urgently needed. Here we address in detail the overall picture utilizing molecular diagnostic approaches that contribute to unraveling the population-specific mutational analysis of β-globin gene. We also present approaches for molecular diagnostic strategies that are applicable to β-thalassemia, sickle cell anemia, and other genetic disorders.

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Sources of Errors in Molecular Testing

Chandler¹

2013

Accurate Results in the Clinical Laboratory

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Microarray Technology for Mutation Analysis of Low-Template DNA Samples

Cited by 6 publications

References 47 publications

Preimplantation genetic diagnosis in Saudi Arabia

Preimplantation genetic diagnosis in Saudi Arabia

Genetic Predisposition to β-Thalassemia and Sickle Cell Anemia in Turkey: A Molecular Diagnostic Approach

Sources of Errors in Molecular Testing

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