GENETIC DISEASES – Mnemonic
Autosomal recessive diseases:
- SICKLE CELL ANAEMIA: gene present on the 11th chromosome.
- PHENYLKETONURIA: gene present on the 12th chromosome.
- THALASSEMIA: α-thalassemia gene is present on 16th chromosome while β-thalassemia gene is present on the 11th chromosome.
- ALKAPTONURIA: the gene is present on the 3rd chromosome.
- CYSTIC FIBROSIS: the gene is present on 7th chromosome.
Mnemonic: Alka, Sick Thi, Phenyl pine Ce
Sex-linked recessive diseases:
- NIGHT BLINDNESS:
- DUCHENNE’S MUSCULAR DYSTROPHY:
Mnemonic: Color-blindness se Humme Night ko Difficulty hoti hai.
- PATAU SYNDROME: trisomy of the 13th chromosome.
- EDWARDS SYNDROME: trisomy of the 18th chromosome.
- DOWN SYNDROME: trisomy of the 21st chromosome.
- KLINEFELTER’S SYNDROME in human males: the presence of XXY chromosome.
To remember: 13 + 5 = 18 + 3 = 21
- 13, 18, 21: PED
- TURNER’S SYNDROME in human females: presence of a single X chromosome.
- CRI-DU-CHAT SYNDROME: deletion in short arm of the 5th chromosome.
- LEUKEMIA: deletion in the long arm of the 22nd chromosome and is added to the 9th chromosome.
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