Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR

Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome.

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (MDA) for PGD of the fragile X syndrome. Whole genome amplificatio...

Simplified Preimplantation Genetic Diagnosis of Common Determinants of Hemoglobin Bart’s Hydrops Fetalis Syndrome Using a Multiplex- Microsatellite PCR Assay

The high incidence of double-gene deletions in α-thalassemia increases the risk of having pregnancies with homozygous α0-thalassemia, the cause of the lethal hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, current gap-PCR based PGD protocol for deletional α-thalassemia required specific prim...

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

BACKGROUND In this paper, we review our clinical preimplantation genetic diagnosis (PGD) programme for fragile Xa syndrome, analysing if PGD for these couples is still a valuable option, as it is particularly difficult for two reasons. First, the couples have to be informative (the number of triplet repeats on the healthy FMR-1 allele of the mother has to be different from the number of repeats...

Leptospirosis Diagnosis Using Nested-pcr

Leptospirosis is a worldwide sanitary problem. Its clinical signs resemble that of other diseases like Dengue and Flu, and it is difficult to distinguish between them. Currently available diagnostic methods shown low sensitivity and specificity. Efforts have been made to develop simpler, faster and more efficient diagnostic methods. The aim of this work was to evaluate and optimize a Nested-PCR...

Genetic test for fragile X syndrome