Genetic Disorders
Genetic Disorders: Overview
This Topic covers sub-topics such as Thalassemia, Sickle-cell Anaemia, Turner’s Syndrome, Klinefelter’s Syndrome, Down’s Syndrome, Haemophilia, Phenylketonuria, Colour Blindness, Genetic Disorders, Pedigree Analysis and, Chromosomal Disorders
Important Questions on Genetic Disorders
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
XO chromosomal abnormality in humans causes _____.
Genes of which one of the following is present exclusively on the X-chromosome in humans?
In a population of 2000 individuals 4% affected with phenylketonuria. How many do not have the disorder but have the gene for phenylketonuria?
Select the correct matching regarding standard symbol of pedigree analysis
| Column-I | Column-II | ||
| (A) |  |
(1) | Female |
| (B) |  |
(2) | Male |
| (C) |  |
(3) | Mating |
| (D) |  |
(4) | Sex unspecified |
The method for analyzing inheritance pattern of traits in human being is
Which of the following is an autosomal dominant trait?
Which of the following amino acid is not present in first six amino acids in affected -chain of Haemoglobin in sickle cell anaemia?
Which of the following is sex-linked recessive disorder?
Gynaecomastia is seen in case of
Turner's syndrome occurs due to the loss of
and are pictures of two individuals showing symptoms of two different diseases. Identify the disease on the basis of given symptoms.
Trisomy of chromosome number is characterized by all following except
In pedigree analysis, identify the symbol that means mating ?
