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Related Concept Videos

Case Studies01:22

Case Studies

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There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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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.
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Incomplete Dominance01:43

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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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Sex-linked Disorders01:43

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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.
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Beyond Living Donor Kidney Transplantation in COL4 Nephropathy - A Real-World Clinical Dilemma in Light of Current Guidelines.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Two Brothers from Macedonia with Gitelman Syndrome.

A Janchevska1, V Tasic1, O Jordanova1

  • 1University Children's hospital, Skopje, Rep. of N. Macedonia.

Balkan Journal of Medical Genetics : BJMG
|August 14, 2023
PubMed
Summary

Gitelman syndrome, a rare kidney disorder, was diagnosed in two brothers through genetic testing. They presented with muscle spasms and electrolyte imbalances, confirming the diagnosis and guiding treatment with supplements and diet.

Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy.
Keywords:
Gitelman syndromeSLC12A3hypocalciuriahypokalemiahypomagnesemia

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  • Pathogenic variants in the SLC12A3 gene cause GS.
  • Clinical features can mimic other disorders, necessitating molecular genetic analysis for accurate diagnosis.