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Question
Mention the symptoms of Phenylketonuria.
Solution
Severe mental retardation, light pigmentation of skin and hair. Phenylpyruvic acid is excreted in the urine.
RELATED QUESTIONS
If only one 'X' chromosome is found in a female person, which of the following symptoms she will show?
- epicanthal skin fold
- webbing of neck
- small testis and absence of spermatogenesis
- presence of simian crease on the palm
Give any 'two' names of X-linked diseases
(a) Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
(b) Write the genotypes of the normal parents producing a haemophilic son.
Name the disorder caused by under secretion of thyroxine in children
Identify the disease caused by an autosomal primary non-disjunction.
Identify the genetic disorder m which an individual has an overall masculine development, gynaecomastia and is sterile.
Following list indicates various genetic diseases. Identify the diseases that are not caused due to single gene defect.
Huntington's chorea, alkaptonuria, Sickle cell anaemia, Down syndrome, thalassemia, Taysachs disease, Turner syndrome, cystic fibrosis, haemophi Lia, Klinefelter syndrome, albinism
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Extra chromosome ‘X’ is present in which one of the following cases?
Where are the genes for cytoplasmic male sterility in plants located?
Females with Turner’s syndrome have ______.
Rajesh and Mahesh have defective haemoglobin due to genetic disorders. Rajesh has too few globin molecules while Mahesh has incorrectly functioning globin molecules. Identify the disorder they are suffering from.
| Rajesh | Mahesh | |
| A. | Sickle cell anaemia - an autosome linked recessive trait | Thalassemia - an autosome linked dominant trait |
| B. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked recessive trait |
| C. | Sickle cell anemia - an autosome linked recessive trait | Thalassemia - an autosome linked recessive blood disorder |
| D. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked dominant trait |
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
The number of Barr bodies present in a female with Turner's syndrome is ______
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
Turner's syndrome is a/an ______
The technique exployed in human genetic counselling is:
It is said, that the harmful alleles get eliminated from population over a period of time, yet sickle cell anaemia is persisting in human population. Why?
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
Jacob is genetically a carrier of the disorder that affects the shape of the RBCs, as shown in the diagram below. His son James suffers from the same disorder.
- Give the biochemical reason for the disorder that changes the shape of the RBCs, as shown above.
- Draw a Punnett square to show the genotype of the mother of James.
- Name and define the type of 'point mutation' responsible for this disorder.
