Question

chapter 12;idc codes for the enzymatic deficiency disorders...


chapter 12;idc codes for the enzymatic deficiency disorders questions

1.justify; In aneuploidy the entire set of chromosome is not involved in duplication of deletion.

2.elaborate on the coding factor of the Cdc-20?

3. The inactivation of M-Cdk is through the Cdc20-APC activity, what activates Cdc-20-APC?

4. P53 requires ________________for its activity.explain

5.among the daughter cels,explain the  Hydroxyurea prevention of DNA replication

6.explain the activation process as attained by the Cdc25

7.interconnect the  Klinefelter to the example of trisomy

8.how does the disruption of the Gene balance render the Aneuploidy deleterious

9.3. Turner's syndrome is a result of?elaborate

10.calculate the 12 numbers generated by the organism has 14 chromosomes in nullisomy

Answer & Explanation
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 In aneuploidy the change is in one or two chromosomes and not an increase or decrease of an entire set. This makes it different from euploidy.

 Mad 2 bind to unbound kinetochores, which leads to inactivation of Cdc-20. This is a checkpoint that makes sure anaphase only occurs when all the centromeres are bound to spindle. 

  M-Cdk; M-Cdk itself promotes the ubiquitine lygase that marks M-cyclin for destruction, thereby inactivating M-Cdk. This helps in anaphase.

Step-by-step explanation

1. In aneuploidy the change is in one or two chromosomes and not an increase or decrease of an entire set. This makes it different from euploidy.

2. Mad 2 bind to unbound kinetochores, which leads to inactivation of Cdc-20. This is a checkpoint that makes sure anaphase only occurs when all the centromeres are bound to spindle. 

3.  M-Cdk; M-Cdk itself promotes the ubiquitine lygase that marks M-cyclin for destruction, thereby inactivating M-Cdk. This helps in anaphase.

4. Mdm;  P53 prevents cell cycle progression during DNA damage. This is mediated with the help of Mdm which helps it to induce transcription of p21 that helps prevent a continuation of cell cycle.

5.  Hydroxyurea prevents DNA replication. When this is coupled with caffeine that helps overcome M-Cdk checkpoint it leads to improper chromosome distribution among the daughter cells.

6. Cdc25 is a phosphatase that removes the inhibitory phosphate of the Cyclin-Cdk that prevents its activity- Thus, it activates Cyclin-Cdk. Other processes are inhibitory.

7.  Klinefelter syndrome results from trisomy in sex chromosome producing 44+ XXY. Turner is due to monosomy, endosperm is triploid i.e. the complete set of chromosome is increased and XP is due to mutation or deletion in gene not entire chromosome.

8.  In case of aneuploidy there is loss or gain in single chromosome which results in dis-balance of the genes and their products. This is a reason that aneuploids are usually lethal.

9.  Monosomy;  In Turner's syndrome one set of sex chromosmome is lost resulting in 44+XO females who have masculine condition. This is a result of monosomy.

10. Nullisomy results in (2n-2) set of chromosome, here n=7, so it will result in 12 chromosome over all.hence 12