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Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

Pedigree Analysis

Pedigree Analysis

Incomplete Dominance

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.

X-linked Traits

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”.

X-linked Traits

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”.

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Related Experiment Video

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Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

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Published on: January 4, 2017

Dominantly-inherited lop ears.

Alexander K C Leung¹, Albert Y F Kong, W Lane M Robson

¹Department of Pediatrics, the University of Calgary, and the Alberta Children's Hospital, Calgary, Alberta, Canada. aleung@ucalgary.ca

American Journal of Medical Genetics. Part A

|September 4, 2007

Summary

This study identifies an isolated bilateral lop ear anomaly in a Chinese family across four generations. Autosomal dominant inheritance is the most likely genetic cause for this condition.

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Area of Science:

Genetics
Medical Genetics
Human Inheritance

Background:

Bilateral lop ear anomaly is a rare congenital condition.
Understanding the genetic basis of ear malformations is crucial for genetic counseling.

Purpose of the Study:

To investigate the inheritance pattern of isolated bilateral lop ear anomaly in a Chinese family.
To determine the most probable mode of genetic transmission for this condition.

Main Methods:

Pedigree analysis of a four-generation Chinese family.
Clinical observation of affected individuals with bilateral lop ear anomaly.

Main Results:

Five family members across four generations presented with isolated bilateral lop ear anomaly.
The pattern suggested a dominant mode of inheritance.
Absence of male-to-male transmission was noted, but did not rule out X-linked dominant inheritance.

Conclusions:

Autosomal dominant inheritance is the most likely mode of transmission for isolated bilateral lop ear anomaly in this family.
The severity of the phenotypic anomaly was similar in affected males and females, supporting autosomal inheritance.