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Inherited disorders
- 1. InherIted dIsorders Prof. H. S. Shinde K. K. Wagh College of Agricultural Biotechnology, Nashik. India
- 2. Inherited disorder Defination- Inherited disorder or genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in DNA or addition or subtraction of an entire chromosome or set of chromosomes. Most inherited disorders are quite rare and affect one person in every several thousands or millions. Inherited disorders may results by • Point mutation, or any insertion/deletion entirely inside one gene • Deletion of a gene or genes • Whole chromosome extra, missing, or both
- 3. Allosomal Disorders • Allosomes are also referred to as sex chromosomessex chromosomes • Inherited disorders which are related to sex chromosomes are called as Allosomal disorders • Examples of allosomal disorder are 1. Kleinfelter’s syndrome 2. Turners syndrome
- 4. Kleinfelter’s syndrome (or Klinefleter’s) Disorder occurring due to nondisjunction of the X chromosome. The Sperm containing both X and Y combines with an egg containing the X, results in a male child. The egg may contribute the extra X chromosome.
- 5. XXY • Males with some development of breast tissue. • Little body hair is present, and such person are typically tall, have small testes. • Infertility results from absent sperm. • Evidence of mental retardation may or may not be present.
- 7. Turner’s Syndrome • Due to monosomy X- (absence of an entire sex chromosome) • Turner syndrome is associated with underdeveloped ovaries, short stature, webbed, and is only in women • Broad chest. • Individuals are sterile, and lack expected secondary sexual characteristics. • Mental retardation typically not evident.
- 9. Autosomal disorders • An autosome is a chromosome that is not an allosome (i.e., not a sex chromosome). • Autosomes appear in pairs • humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). • Disorders related to Autosome are autosomal disorders
- 10. • Examples of Autosomal disorder 1. Downs syndrome 2. Haemophilia 3. Sickle cell anemia
- 11. Down’s Syndrome Caused by non- disjunction of the 21st chromosome. This means that the individual has a trisomy (3 – 2lst chromosomes).
- 12. Down’s Syndrome or Trisomy 21
- 13. Symptoms of Down Syndrome •Small ears that fold over at the top. •Small, flattened nose. •Small mouth, making tongue appear large. •Short neck. •Small hands with short fingers. •Mental retardation
- 14. Haemophilia • Haemophilia is a hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation • Blood clotting or coagulation is useful to stop bleeding when a blood vessel is broken. • Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000– 10,000 male births. • Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.
- 15. • Haemophilia A and B both are recessive X-linked genetic disorder • Symptoms- uncontrolled bleeding without any control after wound
- 16. Sickle Cell Anemia Occurs due to mutation in the haemoglobin gene. An inherited, chronic disease in which the red blood cells, normally disc-shaped As a result, they function abnormally and cause small blood clots.
- 17. Sickle Cell Anemia Sickle cell disease is most commonly found in African and American populations. This disease was discovered over 80 years ago
- 18. Other examples
- 19. Color Blindness Cause: X-linked recessive The genes that produce photopigments are carried on the X chromosome; if some of these genes are missing or damaged, color blindness will be expressed in males with a higher probability than in females Individuals are unable to distinguish shades of red- green.
- 21. Albinism • Due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. • Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates • Patients are unable to produce skin or eye pigments, and thus are light-sensitive
- 22. Hairy ears Y-linked trait, which is rare Symptoms…hairy ears