Genetic Disorders

Question	Answer
Name a disease caused due to point mutation.	Sickle - cell anaemia
What is the cause of Klinefelter's syndrome?	presence of an additional copy of X - chromosome resulting in the karyotype 45+XXY (chromosomal disorder)
What is Thalassemia?	-an autosome linked recessive disease -occurs due to either mutation or deletion resulting in reduced rate of synthesis of one of the globin chains of haemoglobin
Which allele controls sickle - cell anaemia?	a single pair of allele Hb^A and Hb^S
What causes Mendelian disorders?	alteration or mutation in single gene
Where is the gene for colour blindness located?	on X chromosome
What chemical changes occur in the body of a person with phenylketonuria?	phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives. This affects brain, resulting in mental disorders.
List symptoms of Turner's syndrome.	-sterile female with rudimentary ovaries. -shield -shaped thorax -webbed neck -poor development of breasts -short stature, small uterus, puffy fingers
What is aneuploidy?	the phenomenon of failure of segregation of chromatids during cell division resulting in gain or loss of chromosomes
Who is the carrier of haemophilia, male or female?	the heterozygous female (carrier) transmits the disease

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	Created by Anjali Mathur over 7 years ago