Fichas
Genetic Disorders
Fichas del conjunto (10)
- 1Name a disease caused due to point mutation.Sickle - cell anaemia
- 2What is the cause of Klinefelter's syndrome?presence of an additional copy of X - chromosome resulting in the karyotype 45+XXY
(chromosomal disorder) - 3What 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 - 4Which allele controls sickle - cell anaemia?a single pair of allele Hb^A and Hb^S
- 5What causes Mendelian disorders?alteration or mutation in single gene
- 6Where is the gene for colour blindness located?on X chromosome
- 7What 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.
- 8List 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 - 9What is aneuploidy?the phenomenon of failure of segregation of chromatids during cell division resulting in gain or loss of chromosomes
- 10Who is the carrier of haemophilia, male or female?the heterozygous female (carrier) transmits the disease
Información
- Descripción
- Covers common genetic diseases, branched into Mendelian and chromosomal diseases
- Creado por
- Anjali Mathur
- Visitas
- 7
- Etiquetas
- Valoración