Mendelian Disorders in Humans
Mendelian Disorders in Humans: Overview
This topic covers concepts, such as, Genetic Disorders, Pedigree Analysis, Autosomal Recessive Disorders & Tay-Sachs Disease etc.
Important Questions on Mendelian Disorders in Humans
Choose the Mendelian disorder that is a sex-linked recessive disorder.
What would be the genotype of:
(i) An individual who is carrier of sickle cell anaemia gene but apparently unaffected.
(ii) An individual affected with the disease.
Which of the following species is rarely haemophilic?
Recently a girl baby has been reported to suffer from haemophilia. Her mother was not suffering from the disease. The genotype of her father would be:
The trait can be described as:
The haemophilia is:
Sickle cell anaemia is characterised by
Genes of which one of the following is present exclusively on the X-chromosome in humans?
In humans, attached earlobes are a dominant feature over free earlobes while hypertrichosis of the ear is a holandric (-linked) feature. A man with attached earlobes and extensive hair on pinna married a woman having free earlobes. The couple had one son with attached earlobes and hairy pinna, another son with free earlobes and hairy pinna and two daughters with attached earlobes. One of the daughters married a man with free earlobes and sparse hair on pinna. They had two sons. What would be the characteristics of their pinnae? What would be characteristic of their two daughters?
Choose the correct the combination.
| Group I | Group II | ||
| P. | Phenylketonuria | i. | Melanin synthesis |
| Q. | Albinism | ii. | Conversion of Phenylalanine to Tyrosine |
| R. | Homocystinuria | iii. | Tyrosine degradation |
| S. | Argininemia | iv. | Methionine metabolism |
| v. | Urea synthesis |
Which of the following is/are sex-linked disease?
The progeny of normal woman and colour-blind father will be
Which of the following statements are correct?
Which one of the following disorders and characteristic is correctly matched
Which ONE of the following Mendelian diseases is an example of -linked recessive disorder?
Identify the odd one among the following disorders:
In sickle cell anaemia there is deformity of :
Which of the following is a genetic disease?
Which one of the following conditions is not responsible for the presence of deoxygenated blood in the arteries of a newborn
Which of the following is most appropriate for thalassemia?
