Related Experiment Video

Updated: May 28, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Shwachman-Diamond syndrome in India

Ajaya Kumar Jha, Deepak Bansal, Sheetal Sharda

    Pediatric Blood & Cancer
    |October 13, 2011
    PubMed
    Summary

    No abstract available in PubMed .

    More Related Videos

    Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants09:16

    Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

    Published on: February 21, 2015

    Chromosome Preparation From Cultured Cells07:42

    Chromosome Preparation From Cultured Cells

    Published on: January 28, 2014

    Related Concept Videos

    Genome-wide Association Studies-GWAS01:11

    Genome-wide Association Studies-GWAS

    Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
    GWAS does not require the identification of the target gene involved in...
    Genomic Imprinting and Inheritance02:30

    Genomic Imprinting and Inheritance

    Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
    The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
    Karyotyping01:17

    Karyotyping

    Overview
    Karyotyping01:17

    Karyotyping

    Overview
    Sex-linked Disorders01:43

    Sex-linked Disorders

    Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...