Genes, Chromosomes and Human Genetics

These flashcards cover vocabulary and key concepts related to genes, chromosomes, and human genetics as outlined in the lecture notes.

Linked Genes

Genes located near each other on the same chromosome that tend to be inherited together.

Recombination

The process by which homologous chromosomes exchange genetic material during meiosis.

Sex-linked Genes

Genes located on sex chromosomes, with different inheritance patterns in males and females.

Autosomes

Chromosomes that are not sex chromosomes; in humans, chromosomes 1 to 22.

Mitochondrial Inheritance

Inheritance pattern for genes located in mitochondrial DNA, mostly inherited from the mother.

Pedigree Analysis

A diagram representing family relationships and history used to study inheritance patterns.

Chromosomal Mutation

Alterations in the structure or number of chromosomes affecting inheritance.

Dosage Compensation

The mechanism by which organisms equalize the expression of genes on the X chromosome between males and females.

Genetic Map

A representation of the arrangement of genes on a chromosome based on recombination frequency.

Dihybrid Cross

A genetic cross between individuals that differ in two traits.

Barr Body

The inactivated X chromosome in female mammals, which condenses into a tightly coiled structure.

Aneuploid

An organism with an abnormal number of chromosomes.

Trisomy 21

A genetic disorder resulting from an extra copy of chromosome 21, causing Down syndrome.

X-Linked Recessive

A genetic trait expressed in males with one copy of the recessive allele on the X chromosome.

Translocation

A chromosomal mutation where a segment of one chromosome is transferred to another chromosome.

Duplication

A chromosomal mutation where a segment is copied and inserted into the same or another chromosome.

Deletion

A chromosomal mutation where a segment of a chromosome is lost.

Inversion

A chromosomal mutation where a segment of a chromosome is reversed end to end.

Nondisjunction

The failure of chromosomes to separate during cell division, resulting in gametes with abnormal chromosome numbers.

Calico Cat

A cat with a color pattern that is a result of X-chromosome inactivation affecting fur color.

Genomic Imprinting

A genetic phenomenon wherein certain genes are expressed in a parent-of-origin-specific manner.

SRY Gene

A gene on the Y chromosome that determines the male sex in humans.

Hemophilia

A genetic disorder that impairs the body's ability to make blood clots, usually inherited X-linked.

Cystic Fibrosis

A genetic disorder that affects the respiratory, digestive, and reproductive systems, caused by autosomal recessive alleles.

Progeria

A genetic condition that causes rapid aging in children, linked to mutations in the lamin A gene.

Drosophila melanogaster

The scientific name for the fruit fly, a model organism in genetic research.

XYY Syndrome

A genetic disorder in males characterized by the presence of an extra Y chromosome.

Turner Syndrome

A chromosomal disorder in females characterized by the absence of one X chromosome, leading to various physical and developmental issues.

Klinefelter Syndrome

A genetic condition in males caused by an extra X chromosome, leading to various symptoms including infertility.

Normal Distribution

A bell-shaped curve describing the spread of data points in many genetic traits.

Quantitative Traits

Traits that show continuous variability and are influenced by multiple genes.

Chromosome Map Unit

A unit of measure for the distance between chromosomes based on recombination frequency.

Mutant Alleles

Variants of genes that differ from the common or wild-type alleles.

Sexual Reproduction

A process that creates genetic diversity by combining genetic material from two parents.

Genetic Counseling

A process of advising prospective parents about the genetic risks and probabilities of genetic disorders.

Amniocentesis

A medical procedure used in prenatal diagnosis to obtain a sample of amniotic fluid.

Chorionic Villus Sampling

A procedure used to sample the chorionic villi for genetic testing in early pregnancy.

Cytoplasmic Inheritance

The transmission of genetic material located in the cytoplasm, not in the nucleus.

Linkage Map

A graphical representation of the distance between genes on a chromosome based on recombination frequencies.

Pedigree Chart

A diagram that depicts the biological relationships between a group of individuals.

P Generation

The parental generation in a genetic cross.

F1 Generation

The first generation of offspring resulting from a cross of the P generation.

F2 Generation

The second generation of offspring, resulting from the interbreeding of the F1 generation.

Horizontal Gene Transfer

The movement of genetic material between organisms other than by descent from parent to offspring.