Molecular Biology View on Down syndrome: Review article

Rana H Naser, Ammar Algburi, Alyaa Abdelhameed
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Abstract

Background: Down Syndrome (DS) is a resulting from a defect of the genotype in patients affected by it. The occurrence of this type of disease is very common. It has been associated with causing many genetic diseases with a significant change in phenotypic pattern. People with this type of disease suffer from intellectual disability that ranges from mild to moderate, delay in growth and the emergence of some distinctive signs in the face. It leads to Alzheimer’s in some cases. The treatment cost is very high and exorbitant, many laboratories have sophisticated diagnoses methods, but they are expensive and require high skill. Therefore, this disease still needs to develop many genetic methods to facilitate its diagnosis infection rates reduction among humans.The present review article empasied an overview of DS-associated phenotypes diagnosis and managment of the disease. Furthermore,we have also Reviewed further parental diagnosis methods to facilate moleculr methods CSV,MLPA, FISH, QF-PCR, PSQ, and NGS and noninvasive dignosis in details.
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唐氏综合症的分子生物学观点:综述文章
背景:唐氏综合征(DS)是由患者基因型缺陷引起的。这种病的发生是很常见的。它与引起许多遗传疾病有关,表型模式发生显著变化。患有这种疾病的人患有轻度到中度的智力残疾,生长迟缓,脸上出现一些独特的迹象。在某些情况下会导致老年痴呆症。治疗费用非常高昂,许多实验室有先进的诊断方法,但费用昂贵,对技术要求高。因此,该疾病仍需要发展许多遗传方法,以方便其诊断,降低人类感染率。本文就ds相关表型的诊断和治疗作一综述。此外,我们还对进一步的亲本诊断方法进行了综述,以促进分子方法CSV、MLPA、FISH、QF-PCR、PSQ、NGS和无创诊断。
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