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Deepthi, V.
- Sickle Delta Beta Thalassemia - A Compound Heterozygous Sickle Cell Variant
Abstract Views :1292 |
PDF Views:0
Authors
G. Swarnalatha Devi
1,
V. Deepthi
2,
P. VivekSagar
3,
M. Ananta Satyanarayana
4,
K. Anand Rao
5,
B. A. Rama Krishna
6
Affiliations
1 General Medicine Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, West Godavari, A.P. -534005, IN
2 Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
3 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
4 Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
5 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IS
6 Department of Pathology in Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
1 General Medicine Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, West Godavari, A.P. -534005, IN
2 Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
3 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
4 Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
5 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, IS
6 Department of Pathology in Alluri Sitarama Raju Academy of Medical sciences, Eluru, IN
Source
International Journal of Contemporary Medicine, Vol 2, No 1 (2014), Pagination: 196-199Abstract
Sickle cell disease occurs when an individual is homozygous for sickle cell mutation (β6-Glutamic acid β Valine) (HbS/A: 100/0; HbF: 2 - 25%). Heterozygous mutation results in sickle cell trait (HbS/ HbA: 40/60).Inheritance of sickle cell gene along with mutations of α/β/δ genes in compound heterozygosis results in sickle cell variants. CASE REPORT: A 16year old male patient presented with fever, pain abdomen, anaemia, massive tender splenomegaly, unconjugated hyperbilirubinemia, microcytic hypochromic anaemia with sickle cells and target cells, elevatedHbF, HbS with normal HbA2 and decreased HbA.Keywords
Sickle Cell Mutation, Compound Heterozygosity, Fever, Anaemia, Massive Splenomegaly, Unconjugated Hyperbilirubinemia
- Black Palm Squirrel (Funambulus palmarum Linn.) from India: Association with a Frame Shift Mutation in the MC1R Gene
Abstract Views :497 |
PDF Views:183
Authors
R. Dileepkumar
1,
K. Anaswara
1,
V. Navya
2,
S. Beena
3,
A. Jacob
4,
L. Divya
5,
A. S. Vijayasree
6,
V. Deepthi
2,
G. Renganayaki
2,
P. R. Shidhi
2,
M. A. Akbarsha
7,
K. P. Laladhas
8,
Achuthsankar S. Nair
2,
P. R. Sudhakaran
2,
O. V. Oommen
2
Affiliations
1 Indriyam Biologics Private Limited, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram 695 001, IN
2 Department of Computational Biology and Bioinformatics, University of Kerala, Thiruvananthapuram 695 581, IN
3 OmicsGen Life Sciences Pvt Ltd, Cochin 682 301, IN
4 Zoological Garden, Thiruvananthapuram 695 033, IN
5 Department of Animal Sciences, Central University of Kerala, Kasaragod 671 316, IN
6 Department of Zoology, Fatima Mata National College, Kollam 691 001, IN
7 Department of Biotechnology, National College (Autonomous), Tiruchirappalli 620 001, IN
8 St Stephen’s College, Pathanapuram 689 695, IN
1 Indriyam Biologics Private Limited, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram 695 001, IN
2 Department of Computational Biology and Bioinformatics, University of Kerala, Thiruvananthapuram 695 581, IN
3 OmicsGen Life Sciences Pvt Ltd, Cochin 682 301, IN
4 Zoological Garden, Thiruvananthapuram 695 033, IN
5 Department of Animal Sciences, Central University of Kerala, Kasaragod 671 316, IN
6 Department of Zoology, Fatima Mata National College, Kollam 691 001, IN
7 Department of Biotechnology, National College (Autonomous), Tiruchirappalli 620 001, IN
8 St Stephen’s College, Pathanapuram 689 695, IN
Source
Current Science, Vol 121, No 2 (2021), Pagination: 306-312Abstract
This study shows that the dominant mutation of Extension locus in the recessive locus of the agouti Indian three-striped palm squirrel results in constituting an active or hyperactive receptor. This is not inhibited by the agouti antagonist or agouti signalling protein, resulting in melanism. To the best of our knowledge, there is no earlier report of a melanic variant (black) of a three-striped palm squirrel (Funambulus palmarum Linn.) from India. The colour change is due to mutation and is traced to melanocortin-1 receptor (MC1R) gene, where it is proved to be a sequence alteration causing a frame shift in the Extension locus of the wild type. This would have probably caused the constitutive activation of MC1R.Keywords
Agouti Signalling Protein, Dominant Mutation, Funambulus palmarum, Melanism, Melanocortin-1 Receptor.Full Text
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