Genetic Disorders A disease caused by a different form of a gene called a variation, or an...

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Genetic Disorders A disease caused by a different form of a gene called a variation , or an alteration of a gene called a mutation .

Transcript of Genetic Disorders A disease caused by a different form of a gene called a variation, or an...

Page 1: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Genetic Disorders

A disease caused by a different form of a gene called a variation, or an

alteration of a gene called a mutation.

Page 2: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

How genetic disorders occur

1. Monogenetic disorder – mutation of a single gene

• Is inherited• Examples sickle cell anemia

Page 3: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

2. Multifactorial inheritance disorders • Caused by a combination of small inherited

variations in genes, often acting together with environmental factors.

• Examples - Heart disease, diabetes, and most cancers

Page 4: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

3. Chromosomal disorders• Alteration of chromosome number• Example – Downs Syndrome – extra

chromosome

Page 5: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Alteration of chromosome number

• Diagnosed with Karyotype– fetal cells must be harvested and cultured in vitro.– The chromosomes are removed and arranged in

pairs and photographed. – Abnormalities in chromosome number, shape, or

size can be detected this way.

Page 6: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Causes

• Nondisjunction• one gamete receives two of the same type of

chromosome, and another gamete receives no copy.– Problems with the meiotic spindle cause errors in

daughter cells – Tetrad chromosomes do not separate properly

during meiosis I– sister chromatids may fail to separate during

meiosis II

Page 7: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Offspring from nondisjunction

• Have abnormal chromosome number - aneuploidy.– Trisomic cells have three copies of a particular

chromosome type and have 2n + 1 total chromosomes.

– Monosomic cells have only one copy of a particular chromosome type and have 2n - 1 chromosomes.

Page 8: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Examples of aneupoidyTrisomy

• Downs syndrome –trisomy 21 (3 copies of chromosome 13)

• Patu syndrome – trisomy 13– Very short life span – less than 1 year

• Edwards syndrome – trisomy 1– Life span less than 10 weeks

• Kleinfelters syndrome XXY– Normal intelligence – abnormal sex organs

Page 9: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Monosomy

• XYY – males taller than normal• XXX – females indistinguishable from XX

females• Turners syndrome – monosomy X– Only know viable monosomy in humans

Page 10: Genetic Disorders A disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.

Task

• Karyotyping activity at Bio Project• http://www.biology.arizona.edu/human_bio/activities/karyotyping/Karyotyping.ht

ml1. Evaluate 3 patients' case histories, 2. Complete their karyotypes, and 3. Diagnose any missing or extra chromosomes4. Do an internet search to explain your diagnoses.

http://www.biology.arizona.edu/human_bio/activities/karyotyping/Karyotyping.html
http://www.biology.arizona.edu/human_bio/activities/karyotyping/Karyotyping.html

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