Unit 6 Human Disease. (additional reference – Chapter 7 of Textbook). Congenital and Genetic Disorders. Overview. A genetic disorder is a disease caused by a variation in an individual’s DNA, or an alteration of a gene called a mutation.
(additional reference – Chapter 7 of Textbook)
Congenital and Genetic Disorders
Pathophysiology - Borders
Genetic Disorder's Interactive
A karyotype is an individual's collection of chromosomes.
The term also refers to a laboratory technique that produces an image of an individual's chromosomes.
The karyotype is used to look for abnormal numbers or structures of chromosomes.
Gene mapping is the process of establishing the locations of genes on the chromosomes.
Researchers using gene maps to help cure diseases. Genetic mapping is on the cutting edge of disease prevention.
Chorionic villus sampling (CVS) is the removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects.
Examples of Chromosomal Mutations –
Occurs in about 1 of 1,200 males and 1 of 2,500 females. Results from a breakage of the tip of an X chromosome.
Occurs in about 1 of 1,000 males. It is caused by an extra X chromosome
Occurs in about 1 of 1,000 females. Women appear normal, but tend to score slightly below average in intelligence.
Occurs in about 1 0f 1,000 males. The men tend to be taller than average, with a greater incidence of acne and minor skeletal abnormalities.
loss of oneamino acid
transports salt through protein channel out of cell
Osmosis: H2O follows Cl–
cells lining lungs
bacteria & mucus build up
thickened mucus hard to secrete
mucus secreting glands
Substitution of one amino acid in polypeptide chain
hydrophobic amino acid
In most cases, Down syndrome occurs when there is an extra copy of chromosome 21, or Trisomy 21. The extra chromosome causes problems with body and brain development.