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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
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...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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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

Single gene mutations causing SGA.

Marie J E Walenkamp1, Jan M Wit

  • 1Department of Paediatrics, J6-S, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands. m.walenkamp@lumc.nl

Best Practice & Research. Clinical Endocrinology & Metabolism
|June 10, 2008
PubMed
Summary
This summary is machine-generated.

Genetic defects in the growth hormone-insulin-like growth factor-I (GH-IGF-I) axis significantly impact fetal development. Mutations in IGF-I and IGF1R genes reveal crucial roles for intra-uterine IGF-I in human growth.

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Area of Science:

  • Endocrinology
  • Human Genetics
  • Developmental Biology

Background:

  • The growth hormone-insulin-like growth factor-I (GH-IGF-I) axis is essential for fetal growth and development.
  • Genetic variations impacting this axis can lead to significant developmental abnormalities.
  • Understanding these genetic defects is crucial for diagnosing and managing intra-uterine growth issues.

Purpose of the Study:

  • To review the impact of genetic defects in the GH-IGF-I axis on intra-uterine growth and development.
  • To correlate specific genetic mutations with observed phenotypes in affected individuals.
  • To highlight the role of intra-uterine insulin-like growth factor-I (IGF-I) in human development.

Main Methods:

  • Review of existing literature on genetic defects within the GH-IGF-I axis.
  • Analysis of data from animal knockout experiments investigating GH-independent IGF-I secretion.
  • Examination of clinical case reports and genetic data from patients with IGF-I and IGF1R gene mutations.

Main Results:

  • Animal studies confirm GH-independent IGF-I secretion and its in utero effects.
  • Homozygous IGF-I gene defects cause severe intra-uterine growth and developmental problems.
  • Heterozygous IGF1R gene defects present with variable clinical manifestations and phenotypes.

Conclusions:

  • Genetic defects in the GH-IGF-I axis profoundly influence intra-uterine growth.
  • The severity of developmental impact is linked to the specific gene affected and the nature of the mutation (homozygous vs. heterozygous).
  • Genotype-phenotype correlations are essential for understanding the clinical spectrum of these disorders.