SCIMATB March 19, 2012

Genetic Disorders Diseases caused by an abnormality in an individuals DNA Human Genome 46 chromosomes 23 pairs; 22 pairs of autosomal chromosomes or autosomes 1 pair sex chromosomes o Male- x,y o Female x, x Approximately 3 billion base pairs About 30000, 40000 coding genes Damage to these genes may cause some type of abnormality Diagnosis Karyotype o Visual Display of the chromosomes arranged by size, shape, and banding pattern o Metaphase stagethickest o Gymsa stain makes chromosomes visible o Arrange chromosomes by size Analysis of the chromosome make up of the individual Can determine if there are changes in the number or structure of the chromosomes Any change in the chromosomes Amniocentesis Involves drawing out the amniotic fluid surrounding the fetus through a small incision made on the mothers navel Collected fluid contains cells from the fetus that can be analyzed Standard procedure that are done in labs that specialize in diagnosing genetic diseases

Chromosome 1 Contains over 3000 genese Contains over 240 million base pairs of which less that 90% have been determined. Genetic code 1966 o Genetic code was discovered Scientist are now able to predict characteristics by studying DNA This leads to genetic engineering and genetic counseling 2 type of mutations 1. Missense mutation a. Radiation 2. Frameshift mutation a. Completely having misread the genetic code b. Completely different genetic code Chromosomal Mutations 1. 2. 3. 4. A deletion removes a chromosomal segment A duplication repeats a segment An inversion reverses a segment within a chromosome A Tranlocation moves a segment from one chromosome to another, non homologous one. In reciprocal translocation, the most common type. Non homologous chromosomes exchange fragments. Non reciprocal translocation also

occurs, In which a chromosome transfers a fragment without receiving a fragment in return. Single Gene disorders Results when a mutation causes the protein product of a single gene to be altered or missing Autosomal dominant gene disorder o Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disprder o Each affected person usually has one affected parent o There is a 50% chance that a child will inherit the mutated gene. Example: Marfans syndrome, Huntingtons disease Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases

Autosomanl means that the gene in question is located on one of the numbered, or non-sex chromosomes Dominant means that single copy of the disease associated mutation is enough to cause the disease Autosomal Recessive gene disorder Two copies of the gene must be mutated for a person to be affect by an autosomal recessive disorder An affect person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers) Two unaffected people who each carry one copy of the mutated gene have 25% chance with each pregnancy of having a child affected by the disorder. Thalassemia Both parents carry a normal gene and a faulty recessive gene The parents, although carriers, are unaffected by the faulty gene Their offspring are affect, not affected, or carriers