GENETIC DISEASES

Define disease abnormal condition affecting the body of an organism – may be caused by external factors or it may be caused by internal dysfunctions – Ex. Limes diseaseEx. Celiacs Disease

Genetic disease Can a genetic disease be inherited?

Think about it! Would you want to know if you had a genetic disease? Why? Carrying the genetics for a disease does not mean you will develop the disease. Would you still want to know you carry the genes for the disease? If you had a life threatening disease and you have had children, would you get them tested or leave the choice up to them?

Diagnostic Tools Using diagnostic tools can be used to identify various types of common genetic disorders: – Ultrasound – Chorionic Villus Sampling – Amniocentesis – Karyotype – Human Genome Project – Pedigree

Ultrasound

CVS: Chorionic Villus Sampling Preformed earlier in pregnancy weeks' gestation Increases risk of miscarriage 0.5-1% A catheter or needle is used to biopsy placental cells

Amniocentesis Preformed later in pregnancy weeks' gestation Increases rate of miscarriage: % A needle is used to sample amniotic fluid

Why risk miscarriage? Women 35 years of age or older are at increased risk for infants with Down syndrome and certain other types of aneuploidy (abnormal # of chromosomes) Creating karyotype from CVS or amniocentesis gives a definitive answer about possible aneuploidy.

Karyotype (normal male; left, normal female, right)

Abnormal Karyotype

Human Genome Project (HGP) The HGP was a 13-year project that was completed in 2003 The 6 goals of the project: i dentify determine store improve transfer address issues that may arise from the project

Pedigree of genetic inheritance Pedigrees can show how genetics are inherited throughout a family. They show whether a trait is dominant, recessive or sex-linked.

Numbering individuals in pedigrees

Is shaded recessive or dominant?

Fill in the genotypes: complete dominance example

Famous pedigree: hemophilia