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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Incomplete Dominance01:43

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.
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Surveys02:16

Surveys

Often, psychologists develop surveys as a means of gathering data. Surveys are lists of questions to be answered by research participants, and can be delivered as paper-and-pencil questionnaires, administered electronically, or conducted verbally. Generally, the survey itself can be completed in a short time, and the ease of administering a survey makes it easy to collect data from a large number of people.

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Related Experiment Video

Updated: May 31, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

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Published on: March 23, 2022

Smith-Lemli-Opitz syndrome among Arabs.

M Al-Owain1, F Imtiaz, T Shuaib

  • 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. alowain@kfshrc.edu.sa

Clinical Genetics
|June 24, 2011
PubMed
Summary

Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder, was confirmed in five Arab patients. This study highlights the disorder

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Last Updated: May 31, 2026

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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder resulting from 3β-hydroxycholesterol Δ(7)-reductase deficiency.
  • Early diagnosis and understanding of SLOS are crucial due to its variable presentation and potential for severe developmental impact.

Observation:

  • A 10-year biochemical screening of 191 plasma samples identified five Arab patients with confirmed SLOS.
  • These patients exhibited characteristic features including growth retardation, global developmental delay, dysmorphic features, and syndactyly, indicating moderate to severe forms of the disorder.
  • One patient presented with a unique cardiovascular anomaly: cor triatriatum with significant obstruction of right pulmonary veins.

Findings:

  • Gas chromatography-mass spectrometry (GC-MS) was utilized to measure plasma cholesterol and 7-dehydrocholesterol levels.
  • Genetic analysis revealed two known mutations (N287K and R352Q) and one novel mutation (R352L) in the DHCR7 gene in the affected individuals.
  • The study confirms SLOS as a rare but present condition within the Arab population.

Implications:

  • This research enhances the understanding of SLOS prevalence and clinical spectrum in Arab populations.
  • Identifying specific DHCR7 mutations contributes to genetic diagnostics and counseling for SLOS.
  • The findings underscore the importance of biochemical and genetic screening for rare genetic disorders in diverse ethnic groups.