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Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...

Parkinson Disease l: Introduction

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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...

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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

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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,...

Incomplete Dominance

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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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Updated: Jul 16, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Genetics of essential tremor.

Hao Deng¹, Weidong Le, Joseph Jankovic

¹Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Brain : a Journal of Neurology

|March 14, 2007

Summary

Essential tremor (ET) is a common neurological disorder with poorly understood causes. Genetic factors, including identified gene loci and dopamine D3 receptor variants, are implicated in ET development.

Area of Science:

Neurology
Genetics
Movement Disorders

Background:

Essential tremor (ET) is a prevalent neurological disorder with unknown etiology.
Genetic factors are considered significant contributors to ET onset.
Previous research identified three gene loci (ETM1, ETM2, 6p23) associated with ET.

Purpose of the Study:

To explore the genetic underpinnings of Essential Tremor.
To investigate potential genetic risk factors for ET.
To advance the understanding of ET's molecular mechanisms.

Main Methods:

Review of identified gene loci (ETM1, ETM2, 6p23) in ET patients and families.
Analysis of a Ser9Gly variant in the dopamine D3 receptor gene.
Examination of genetically deficient animal models exhibiting ET-like phenotypes.

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Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

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Published on: June 18, 2018

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

Main Results:

Three specific gene loci (ETM1, ETM2, 6p23) have been linked to Essential Tremor.
A Ser9Gly variant in the dopamine D3 receptor gene is a potential risk factor.
Animal models show overlapping phenotypes with human ET.

Conclusions:

Genetic abnormalities play a crucial role in Essential Tremor.
Further genetic analysis may reveal causative mutations for ET.
Understanding genetic factors is key to elucidating ET's molecular mechanisms.