7227861
Descrição
FlashCards por Anjali Mathur, atualizado more than 1 year ago
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Criado por Anjali Mathur
mais de 7 anos atrás
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| Questão | Responda |
| 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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