Human Heredity- Karyotyping and Geneics Disoders

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Human Heredity- Karyotyping and Geneics Disoders

What makes us human? To analyze chromosomes, cell biologist photograph cells in mitosis, when the chromosomes are fully condensed and easy to see. Biologists then cut out the chromosomes and group them together in pairs. A picture of chromosomes arranged this way is known as a KARYOTYPE.

Human Karyotype

What Can Our Chromosomes Tell Us? They can tell us everything from the likelihood that an unborn baby will have a genetic disorder to whether a person will be male or female. Scientists often analyze chromosomes in prenatal testing and in diagnosing specific diseases.

Making a Karyotype A karyotype is an organized profile of a person's chromosomes. Chromosomes are arranged and numbered by size, from largest to smallest. This arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder.

Using Karyotypes to Predict Genetic Disorders A normal human karyotype has 46 chromosomes: 22 pairs of autosomes and 2 sex chromosomes.

Karyotype of a Normal male Chromosome Number Homologous chromosomes Dark bands = Genes Autosomal chromosomes = non sex determining chromosomes, same shaped homologous Sex chromosomes

Sex chromosomes: X = female, Y = male X/Y = male X/X = female

Chromosomal disorders What if you have extra chromosome? What if you are missing a chromosome? Chromosomal disorders usually: Increase chance of having disorders, such as mental disability, sterility, and decrease life expectancy.

Chromosome 21 trisomy  Down syndrome Is anything wrong? Male Chromosome 21 trisomy  Down syndrome

Trisomy 21( extra on the 21st)- Down Syndrome • Redundant neck fold/flat occipital (back of the head) • Low set ears • Protruding/large tongue Wide space between 1st & 2nd toes

Trisomy 13 (47,XY,+13) – Cleft Lip

Cleft Lip- a split or indentation in the lip of a newborn baby.

Is anything wrong? X Turner’s syndrome

Is anything wrong? XXY Klinefelter’s syndrome

Color Blindness

Colorblindness 3 human genes associated with color vision are located on the X chromosome. Because males have one X chromosome, all the genes will be expressed, even if they are recessive. **Increase in Males!