Plasmid pRIT452 was cut with Pstl. HindlII, and EcoRI. From the data below, determine the map Pstl HindIll. 6.2 EcoRI PstI HindIII 4.8 2.0 1.7 Pstl EcoRI 5.4 3.8 3.0 EcoRI HindlII 6.2 1.8 1.2 Plasmid pRIT453 was cut with smal, Hindlu, and EcoRI. From the data low, determine the map. EcoRI 1.6 Hindlll 1.9 Smal 6.6 EcoRI Hindlll 4.5 1.9 1.6 EcoRI Smal 5.7 0.7 Smal HindIII 2.7 2.2 1.9 e the ry on only des o nega Solution figure shows pRIT452 map, in the same way ,it can map pRIT453 also. first draw a gel running like picture then compare fragment with different enzyme and find out exact position accordingly.

1. Please answer the question carefully.
Name and briefly describe 4 different chromosome abnormalities that can occur. (Use actual
conditions and describe how they affect the carriers)
Solution
Four chromosomal abnormalities: Chromosomal abnormalities in carriers are leading to severe
teratogenic effects to the prenatal or antenatal development. Finally, teratogenecity leading to
congenital prenatal structural abnormalities (neural tube defects, growth retardation) during birth
and these abnormalities may pass to the next generation as well in the population.
1. Trisomy: Down's syndrome
2. Monosomy: Turner's syndrome
Monosomy produces cells with 45 chromosomes instead of 46 chromosomes in the cells and it
often referred as aneuploidy. Turner syndrome is the result of autosomal monosomy leading to
miscarriage in early pregnancy followed by spontaneous abortion due to lethal effects.
3. Non-disjunction of chromosomes during reduction division
4. Translocations of genome fragments with deletions, insertions & duplications
X-linked inheritance from men; or microdeletions of the chromosomal domains is predominantly
leading to the inheritance of cleft lip and palate. This is also considered as a dominant trait. It
could be resulted from autosomal recessive inheritance. Aneuoloploidy (triosomy) or barr body
formation also leading to this abnormality. Alpha feto protein synthesized from the yolk sac and
from liver including other stomach tissues. In case of pregnancy of carriers with this
chromosomal abnormality, it has mainly produced due to low gestational age than calculated.
Trisomies including 18 and 21 of chromosomal abnormalities reduce levels of alpha feto protein.
1. William's syndrome: The gene causing physical growth retardation can be rooted from
elastin, a missing gene is responsible for growth retardation in this syndrome.
2). Down's syndrome: Down syndrome is a result of chromosomal abnormality. Patients with
Down syndrome generally have three copies of chromosome 21, rather than the normal 2.
Therefore, they have 47 chromosomes.
Maternal nondisjunction, the failure of homologous chromosomes or sister chromatids to
separate properly, is associated Down’s syndrome and other types of aneuloploidy in humans.
Maternal age is associated with nondisjunction, as primary oocytes ate arrested in woman for
year’s up to 50 years to undergo maturation and to produce mature egg for fertilization but in
males daily spermatogenesis occurs although no age effect is seen in males. Meisosis-I arrested
at prophase –I during fetal development in females therefore with respect to gametogenesis in

2. females chromosomal segregation occurs are prophase-I and rest of the phase is going to be
arrested to produce mature eggs. Therefore, the difference in the age of the gametes of maternal
origin is leading to nondisjunction of the failure of homologous chromosomes or sister
chromatids to separate properly during fertilization.
3). Turner's syndrome: This is caused by incomplete inheritance of or missing X-chromosome,
which generally affects females. The poor growth and development of sexual organs can be seen
early.