Download App

Principles of Inheritance and Variation — BIOLOGY STD 12 Science — Question

Bihar BoardEnglish MediumSTD 12 ScienceBIOLOGYPrinciples of Inheritance and Variation5 Marks
Question
Mention any two autosomal genetic disorders with their symptoms.
✓

Answer

Two autosomal genetic disorders are as follows:

Sickle cell Anaemia:

It is an autosomal linked recessive disorder, which is caused by point mutation in the beta-globin chain of haemoglobin pigment of the blood. The disease is characterized by sickle shaped red blood cells, which are formed due to the mutant haemoglobin molecule. The disease is controlled by HbA and HbS allele. The homozygous individuals with genotype, HbS HbS, show the symptoms of this disease while the heterozygous individuals with genotype, HbA HbS, are not affected. However, they act as carriers of the disease.

Symptoms:

Rapid heart rate, breathlessness, delayed growth and puberty, jaundice, weakness, fever, excessive thirst, chest pain, and decreased fertility are the major symptoms of sickle cell anaemia disease.

Down's syndrome:

It is an autosomal disorder that is caused by the trisomy of chromosome 21.

Symptoms:

The individual is short statured with round head, open mouth, protruding tongue, short neck, slanting eyes, and broad short hands. The individual also shows retarded mental and physical growth.

Need a full question paper?

Generate a complete, print-ready paper with questions like this in minutes — across 16+ boards, with answer keys.

Start Generating Free

Explore more

More "Long Answer Type Questions [5M]" from Principles of Inheritance and Variation→Principles of Inheritance and Variation — all question types→BIOLOGY STD 12 Science question papers→Bihar Board STD 12 Science question papers→Bihar Board question paper generator→

Similar questions

What is transcription. Write the types of RNA. and explain the transcription process in Proakaryotes with the help of diagram.
→
  1. Cancer is one of the most dreaded disease. Explain 'contact inhibition' and 'metastasis with respect to the disease.
  2. Name the group of genes that have been identified in normal cells that could lead to cancer. How do these genes cause cancer?
  3. Name any two techniques that are useful in detecting cancers of internal organs.
  4. Why are cancer patients often given a-interferon as part of the treatment?
→
Explain the difference between the following :
(i) Nucleoside and nucleotide
(ii) DNA and RNA
(iii) Codon and anticodon
(iv) Transcription and translation
(v) Inductive regulation and inhibitory regulation
(vi) RNA splicing and RNA editing
→
Explain the different stages of oogenesis in humans starting from foetal life till its completion. When and where in the body is oogenesis completed?
→
Write the name of any one water-borne disease. Explain the measures to prevent water-borne diseases.
→
Explain the surgical method of contraception with the help of a labelled diagram.###Write the name of a surgical contraceptive method and explain it which can be adopted by the male member of the couple.
→
  1. Work out a dihybrid cross upto F, generation between pea plants bearing violet-coloured axial flowers and white-coloured terminal flowers. Give their phenotypic ratio.
  2. State the Mendel's law of inheritance that was derived from such a cross.
→
a. Explain the process of syngamy and triple fusion in angiosperms.
b. Trace the development of the product of syngamy upto its mature stage in a dicot plant.
c. Draw and label three important parts of a mature dicot embryo.
→
"Plasmid is the boon to Biotechnology'. Justify the statement quotaing the production of human insulin as an example.###How did an American Company Eli Lilly use the knowldege of DNA technology to produced human insulin?
→
Discuss why Drosophila has been used extensively for genetical studies.
→