Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

[Population genetics and medicine].

Vestnik Rossiiskoi Akademii Meditsinskikh Nauk

|September 10, 2002

Summary

This summary is machine-generated.

Studying isolated populations aids in discovering Mendelian diseases and mapping hereditary genes. Advanced molecular genetics and DNA polymorphisms, like SNPs, enhance gene discovery for common diseases and drug response.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

[Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs].

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny·2019

Same author

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

BMC medical genetics·2019

Same author

Expression Profiles of Genes-Potential Therapy Targets-and Their Relationship to Survival in Renal Cell Carcinoma.

Doklady. Biochemistry and biophysics·2018

Same author

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Clinical genetics·2017

Same author

[Marriage and Migratory Characteristic of Circassians (Late 20th Century)].

Genetika·2016

Same author

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.

Scientific reports·2016

Area of Science:

Population genetics
Medical genetics
Molecular genetics

Context:

Isolated populations offer unique insights into human genetic variation and disease.
Advancements in molecular genetic techniques are revolutionizing gene mapping.
Genetic polymorphisms are crucial tools for dissecting complex genetic architectures.

Purpose:

To highlight the synergy between population genetics and medical research.
To explore the utility of novel genetic markers in disease gene discovery.
To demonstrate the application of genetic polymorphisms in pharmacogenetics.

Summary:

Investigates the application of population genetics in identifying Mendelian and common diseases.
Details the role of molecular genetic techniques and polymorphisms (VNTR, STR, SNP) in gene mapping.

Related Experiment Videos

Explains how DNA polymorphisms aid in pharmacogenetics, linking genetic variability to drug efficacy and adverse effects.

Impact:

Facilitates the identification of disease-associated genes in both rare and common conditions.
Improves the understanding of genetic predispositions to diseases.
Enables personalized medicine approaches by predicting drug responses based on genetic profiles.