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Related Concept Videos

Language Development01:22

Language Development

Children master language quickly and with relative ease, supported by both biological predisposition and reinforcement. B. F. Skinner (1957) proposed that language is learned through reinforcement, while Noam Chomsky (1965) argued that language acquisition mechanisms are biologically determined.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
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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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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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CNTNAP2 variants affect early language development in the general population.

A J O Whitehouse1, D V M Bishop, Q W Ang

  • 1Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia. awhitehouse@ichr.uwa.edu.au

Genes, Brain, and Behavior
|February 12, 2011
PubMed
Summary

Common variants in the CNTNAP2 gene influence early language development in toddlers. These genetic factors may increase susceptibility to specific language impairment (SLI) or autism when combined with other risks.

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Area of Science:

  • Genetics
  • Developmental Psychology
  • Neuroscience

Background:

  • Genetic factors significantly influence early language development, yet specific genes impacting normal variation are not well understood.
  • Previous research linked CNTNAP2 gene variants to language deficits in specific language impairment (SLI) and autism spectrum disorder (ASD).

Purpose of the Study:

  • To investigate the association between CNTNAP2 gene variants and communicative behavior in a large, general population sample of 2-year-olds.
  • To determine if common CNTNAP2 variants influence typical early language acquisition.

Main Methods:

  • Analysis of 1149 children from the Western Australian Pregnancy Cohort (Raine) Study.
  • Single-point and haplotype analyses of specific CNTNAP2 genetic markers (rs2710102, rs759178, rs17236239, rs2538976).
  • Assessment of communicative behavior at 2 years of age.

Main Results:

  • Significant associations were found between specific CNTNAP2 variants (rs2710102, rs759178) and communicative behavior, mirroring findings in language disorders.
  • Haplotype analyses identified significant associations for TTAA (P = 0.049) and CGAG (P = .0014) in the exon 13-15 region of CNTNAP2.

Conclusions:

  • Common variants in the CNTNAP2 gene's exon 13-15 region appear to influence early language acquisition in the general population at age 2.
  • These CNTNAP2 variants may confer susceptibility to SLI or autism when interacting with other genetic or environmental risk factors.