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Free PDF: Genetic Analysis of Mental Retardation: The Genes and the Means

Posted on 2010-04-15




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1 Special Article JIACAM Vol. 1, No. 2, Article 4 Genetic Analysis of & 8230; The Fluorescent in Situ Hybridization (FISH) is a molecular Cytogenetic technique. This method of analysis & 8230;Genomic in situ hybridisation (GISH) (Pink el et al & 8230; has now become an integral par tof genome analysis. Wheat genetic & 8230; of repetitive DNA sequences in wheat make molecular genetic & 8230;

Cytogenetic Analysis of Mental Disorders: Analysis of these disorders is carried out in a systematic manner. The patient& 8217;s family history and pedigree are taken, clinical examination, dermatoglyphic analysis, buccal smear analysis, biochemical assays, HLA tissue-antigen typing and karyotyping are done. A karyotype is defined as a set of chromosomes prepared from a photomicrograph of a metaphase spread and its diagrammatic representation is called an Idiogram. Karyotypes are usually made from easily obtainable tissue such as peripheral blood lymphocytes, bone marrow and skin. In case of prenatal diagnosis, amniotic fluid, chorionic villi samples and fetal blood is used. Routinely 25 to 30 metaphases (chromosomes are most condensed at this stage) are analyzed. Chromosomes in each spread are counted to identify the presence of any numerical abnormality. Four or more of these spreads are photographed and at least five figures are drawn and all the chromosomal complements identified. Karyotypes are made from these photographs. Normal metaphase banding resolution is between 450-500 bands. All the karyotype nomenclature is done in accordance with the guidelines of the International Society for Chromosome Nomenclature (ISCN, 1981) The technique of High Resolution Banding (HRB) is used to study more subtle chromosomal variations that may contribute to these disorders. It can give upto 1000 bands. Here the chromosomal analysis is done at the prometaphase stage, where the chromosomes are more elongated. There are various methods to obtain HRB. Some of the more commonly used chemicals are 2 Mercaptoethanol (2ME), Ethidium Bromide & 8230;.. The Fluorescent in Situ Hybridization (FISH) is a molecular Cytogenetic technique. This method of analysis utilizes labelled oligonucleotide probes. These probes are hybridized with the sample and then viewed under fluorescence microscope to obtain the appropriate probe signals. Newer and more specific probes that are commercially available reduce the risk of non-specific hybridization. As hybridization can be done at both interphase and metaphase, this technique provides a simple mean to detect aberrations such as translocation, deletions, inversions etc and even numerical aberrations. Other techniques based in this are, Whole Chromosome Painting (WCP), Comparative Genomic Hybridization (CGH) and Spectral Karyotyping (SKY).

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