
Name one autosomal dominant and one autosomal recessive Mendelian disorder in humans.
Answer
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Hint: In humans, Mendelian disorder is a type of genetic disorder primarily occurring due to a consequence of abnormalities in the genome. The scrutiny hence carried out is known as pedigree analysis.
Complete answer:
These genetic disorders are quite rare and may impact one person in every thousand or a million. Genetic disorders might be or might not be inherited. Inheritable genetic disorders usually happen in the germline cells, whereas in non-inheritable genetic disorders the deficiency is generally caused by new mutations or due to some changes in the DNA.
Example of one autosomal recessive Mendelian disorder :
Sickle-cell anaemia
a.This is an autosomal recessive genetic disorder.
b.According to Mendelian genetics, its inheritance pattern proceeds inheritance from two carrying parents.
c.It is caused when the glutamic acid in the sixth position of the beta-globin chain of haemoglobin molecules is replaced by valine. The mutant...
d.This reduces the oxygen-binding capacity of the haemoglobin molecule.
Example of one autosomal dominant Mendelian disorder:
Skeletal dysplasia
If your son or daughter is born with skeletal dysplasia, they would have abnormal differences in the size and shape of their legs, arms, trunk, or skull. They may be very dwarf in stature. They may also have arms and legs that aren’t in usual proportion with the rest of their body.
Skeletal dysplasia is a genetic condition. It’s caused by a disorder in a specific gene, known as a genetic mutation. Each type of skeletal dysplasia is relatively scarce.
Note: Sickle cell anaemia is brought about by a transformation in the hemoglobin-Beta quality found on chromosome 11. Hemoglobin transports oxygen from the lungs to different pieces of the body..Children with skeletal dysplasia often have limbs that are excessively short contrasted and the remainder of the body.
Complete answer:
These genetic disorders are quite rare and may impact one person in every thousand or a million. Genetic disorders might be or might not be inherited. Inheritable genetic disorders usually happen in the germline cells, whereas in non-inheritable genetic disorders the deficiency is generally caused by new mutations or due to some changes in the DNA.
Example of one autosomal recessive Mendelian disorder :
Sickle-cell anaemia
a.This is an autosomal recessive genetic disorder.
b.According to Mendelian genetics, its inheritance pattern proceeds inheritance from two carrying parents.
c.It is caused when the glutamic acid in the sixth position of the beta-globin chain of haemoglobin molecules is replaced by valine. The mutant...
d.This reduces the oxygen-binding capacity of the haemoglobin molecule.
Example of one autosomal dominant Mendelian disorder:
Skeletal dysplasia
If your son or daughter is born with skeletal dysplasia, they would have abnormal differences in the size and shape of their legs, arms, trunk, or skull. They may be very dwarf in stature. They may also have arms and legs that aren’t in usual proportion with the rest of their body.
Skeletal dysplasia is a genetic condition. It’s caused by a disorder in a specific gene, known as a genetic mutation. Each type of skeletal dysplasia is relatively scarce.
Note: Sickle cell anaemia is brought about by a transformation in the hemoglobin-Beta quality found on chromosome 11. Hemoglobin transports oxygen from the lungs to different pieces of the body..Children with skeletal dysplasia often have limbs that are excessively short contrasted and the remainder of the body.
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