Introduction and Types of Genetic Disorders

Q.

What is an autosomal disease?

Q. The condition in which there is a gain or loss of chromosome(s) due to failure in segregation of chromatids during cell division is called .

1. non-disjunction
2. crossing over
3. aneuploidy
4. ploidy

Q. Pick out the correct statements:
(i) Hemophilia is a sex – linked recessive disease
(ii) Down’s syndrome is due to aneuploidy
(iii) Phenylketonuria is an autosomal recessive gene disorder
(iv) Sickle cell anaemia is an X-linked recessive gene disorder

1. (ii) and (iv) are correct
2. (i) and (iv) are correct
3. (i), (iii) and (iv) are correct
4. (i), (ii) and (iii) are correct

Q. To which of the following disease, this pedigree analysis can not belong:

1. Colour blindness
2. Huntington's disease
3. Polycystic kidney
4. Neurofibromatosis

Q.

What is aneuploidy and its types?

Q.

Beadle and Tatum showed that each kind of mutant bread mould they studied lacked a specific enzyme. Their experiments demonstrated that

1. Enzymes are required to repair damage.

2. Cells need specific enzymes in order to function.

3. Genes carry information for making proteins.

4. Genes are made up of DNA.

Q. Cri du chat syndrome in humans is caused by the :

1. Loss of half of the long arm of chromosome 5
2. Fertilization of an XX egg by a normal Y - bearing sperm
3. Loss of half of the short arm of chromosome 5
4. Trisomy of 21st chromosome

Q. What do you mean by chromosomal disorder?

Q. An increase in a whole set of chromosomes is known as

1. aneuploidy
2. multiploidy
3. polyploidy
4. triploidy

Q. Which of the following human disorder does not follow Mendelian pattern of inheritance?

1. Colorblindness
2. Sickle cell anemia
3. Down's syndrome
4. Thalassemia

Q. Among the given options, which criteria must a genetic disorder qualify to be classified as a Mendelian disorder?

1. Mutation in a single gene
2. Mutation in an entire chromosome
3. Mutation in germplasm
4. Mutation in genome

Q.

Does Down syndrome affect speech?

Q. Differentiate between aneuploidy and polyploidy.

Q. Identify the statement(s) which are correctly matched:
I. Autosomal disorder: Affects females more than males
II. Mutation in a single gene: Mendelian disorder
III. Chromosomal disorder: change in one gene in a chromosome
IV. Pedigree charts: Knowledge of family history of a genetic disease helps in its construction

1. Statement II and IV are correctly matched
2. Statements I and III are correctly matched
3. All statements are correctly matched
4. Statement II, III and IV are correctly matched

Q.

What is anencephaly?

Q. Cri du chat syndrome in humans is caused by the :

1. Fertilization of an XX egg by a normal Y - bearing sperm
2. Loss of half of the short arm of chromosome 5
3. Loss of half of the long arm of chromosome 5
4. Trisomy of 21st chromosome

Q. Among the given options, which criteria must a genetic disorder qualify to be classified as a Mendelian disorder?

1. Mutation in a single gene
2. Mutation in an entire chromosome
3. Mutation in germplasm
4. Mutation in genome

Q. What is the difference between inherited and acquired traits?

Q.

Which type of abnormalities can be detected by cytogenetic techniques?

Q.

How is Klinefelters diagnosed?

Q. Pattern baldness is a sex-linked recessive trait. If a woman whose father is bald and a man who is bald have a son and the womans mother does not carry the allele for pattern baldness. The probability that the son will inherit the allele for pattern baldness is

1. 0%
2. 25%
3. 50%
4. 75%
5. 100%

Q. Write the difference between $\alpha -$ thalassemia and $\beta -$ thalassemia.

Q. Major histocompatibility (MHC) complex genes are present in which of the following chromosome of humans?

1. Chromosome 22
2. Chromosome 7
3. Chromosome 6
4. X chromosome

Q. In an allergic reaction, which of the following is secreted?

1. Histamine
2. Neutrophil
3. Basophil
4. Acidophil

Q. why is colour blindness trait more common in males? also explain conditions when when a female will suffer from colour blindness trait?

Q. Which type of placenta is found in a rat?

1. Epitheliochorial
2. Haemochorial
3. Haemoendothelial
4. Endotheliochorial

Q. Individuals with which of the following disorders will have least number of chromosomes in the somatic cell?

निम्नलिखित में से किस विकार से ग्रसित व्यक्ति की कायिक कोशिका में गुणसूत्र की संख्या सबसे कम होगी?

1. Turner's syndrome
   
   टर्नर सिण्ड्रोम
2. Sickle-cell anaemia
   
   दात्र कोशिका अरक्तता
3. Down's syndrome
   
   डाउन सिण्ड्रोम
4. Klinefelter's syndrome
   
   क्लाइनफेल्टर सिण्ड्रोम

Q.

What race is haemophilia most common in?

Q.

Genes responsible for albinism and phenylketonuria are

1. autosomal recessive genes

2. autosomal dominant genes

3. recessive sex genes

4. dominant sex genes.

Q. An increase in a whole set of chromosomes is known as

1. aneuploidy
2. multiploidy
3. polyploidy
4. triploidy