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Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations

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Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
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Updated: Feb 6, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.

Youn Jung Kim¹, Figen Seymen², Jenny Kang³

¹Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, South Korea.

Clinical Oral Investigations

|August 19, 2018

Summary

Genetic analysis identified mutations in LAMB3 and FAM20A genes causing hypoplastic amelogenesis imperfecta (AI) in Turkish families. This research clarifies the genetic basis of AI, aiding diagnosis and understanding of this rare enamel disorder.

Keywords:

Amelogenesis imperfecta Candidate gene sequencing Deletion-insertion mutation FAM20A LAMB3 Nonsense mutation

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

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Published on: June 15, 2011

Area of Science:

Genetics
Oral Biology
Rare Diseases

Background:

Amelogenesis imperfecta (AI) is a rare inherited condition impacting tooth enamel quality and quantity.
Hypoplastic AI presents distinct clinical features crucial for genetic investigation.

Purpose of the Study:

To determine the genetic causes of hypoplastic amelogenesis imperfecta (AI) in three Turkish families.
To utilize a candidate gene approach based on clinical presentation.

Main Methods:

Recruited three Turkish families exhibiting hypoplastic AI.
Conducted candidate gene screening focusing on genes associated with AI phenotypes.
Performed gene sequencing for LAMB3 and FAM20A.

Main Results:

Family 1: Identified a heterozygous nonsense mutation in the LAMB3 gene (c.3431C>A, p.(Ser1144*)).
Families 2 & 3: Identified homozygous mutations in the FAM20A gene (c.34_35delCT, p.(Leu12Alafs*67) and c.1109+3_1109+7delinsTGGTC).

Conclusions:

The candidate gene approach is effective for diagnosing AI with characteristic clinical features.
Identifying the genetic etiology of AI improves understanding for patients and clinicians.
Clinical features can guide the selection of candidate genes for AI diagnosis.