chp14-Human Genome

Karyotype

A picture of chromosomes arranged to be analyzed under the microscope, paired from largest to smallest.

Sex Chromosomes

The 23rd pair of chromosomes in a karyotype, consisting of XX (female) or XY (male).

Autosomes

The remaining chromosomes 1-22, not including the 23rd pair (sex chromosomes).

Pedigree

A chart that shows the relationships within a family and how a trait may be passed down from generation to generation.

Chromosome Disorders

Disorders that can be seen via the microscope, caused by abnormalities in chromosome number or structure.

Gene Disorders

Disorders that need to be analyzed at the base pair level and are caused by mutations in individual genes.

Cystic Fibrosis

A genetic disorder caused by gene mutations, affecting the lungs and digestive system.

Tay Sachs

A genetic disorder caused by gene mutations, characterized by the destruction of nerve cells in the brain and spinal cord.

Down Syndrome

Also known as Trisomy 21, it is caused by an extra 21st chromosome and occurs in approximately 1 in 800 births.

Klinefelter’s Syndrome

A chromosomal condition characterized by an extra X chromosome, resulting in XXY or XXXY configurations.

Turner Syndrome

A chromosomal condition where an individual lacks one of the sex chromosomes, characterized as XO.

Sex-Linked Genes

Genes located on the X or Y chromosomes, which are expressed in males even if recessive due to them having only one X chromosome.

Color Blindness

A genetic condition often associated with X-linked alleles, causing difficulty in distinguishing colors.

DNA Fingerprinting

Analysis of sections of DNA to identify individuals, often using non-functional parts that vary greatly from person to person.