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Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
General Transcription Factors01:30

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Related Experiment Video

Updated: Jul 12, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

The human gamma-chain variants. A review.

W A Schroeder

    Hemoglobin
    |January 1, 1977
    PubMed
    Summary

    The study examines human gamma-chain variants, detailing their chemical structures. This research significantly advanced understanding of hemoglobin chain genetics and biosynthesis.

    Area of Science:

    • Biochemistry
    • Genetics
    • Molecular Biology

    Background:

    • Hemoglobin is crucial for oxygen transport.
    • Understanding hemoglobin chain variants is key to genetic and biosynthetic knowledge.

    Purpose of the Study:

    • To discuss human gamma-chain variants.
    • To explore their chemical structures.
    • To highlight their importance in hemoglobin genetics and biosynthesis.

    Main Methods:

    • Literature review on human gamma-chain variants.
    • Analysis of chemical structures.
    • Correlation with genetic and biosynthetic data.

    Main Results:

    • Detailed characterization of human gamma-chain variant structures.

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    Last Updated: Jul 12, 2026

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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    A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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  • Established links between variant structures and hemoglobin genetics.
  • Demonstrated impact on understanding hemoglobin biosynthesis.

    • Conclusions:

    • Human gamma-chain variants are critical for comprehending hemoglobin genetics.
    • Their study has profoundly influenced our knowledge of hemoglobin chain biosynthesis.