SEMESTER IV – Z 404 (Elective) Molecular Cytogenetics II – Credits: 4 To apprise the students about chromosomal anomalies and the techniques to Objectives: detect them clinically in different pathological conditions Outcomes: Awareness the structural and numerical chromosomal anomalies by using banding techniques and the methods used for the diagnosis of the chromosomal aberrations in pathological conditions will be generated. Students will get acquainted human genome project and its applications Note: 1. Nine questions will be set in all. 2. Question No. 1, which will be objective/short answer type covering the entire syllabus, will be compulsory. The remaining eight questions will be set section wise selecting four questions from each section (I & II). The candidate will be required to attempt question No. 1 and four more selecting two questions from each section. 3. As far as possible the questions should be divided into sub-parts and marks indicated part wise. Section A – 1.0 Human Cytogenetics: Human karyotype. Nomenclature for normal chromosomes (ISCN) Variable chromosome features Nomenclature for acquired chromosome aberrations Nomenclature for meiotic chromosomes Species codes. 2.0 Chromosome Banding Techniques and their Applications: Q-banding C-banding G-banding and R-banding T-banding High-Resolution and Replication banding Nuclease banding Molecular correlates of chromosome bands. Functional significance of chromosome bands. 3.0 Numerical and Structural Abnormalities of Human Chromosomes –Syndromes: 3.1 Autosomal syndromes cat-cry syndrome, Wolf-Hirchhorn syndrome, – Trisomy 13, Trisomy 18, Trisomy 21. 3.2 Sex chromosomal syndromes Turner syndrome, Klinefelter syndrome, XYY, – True and Pseudohermaphroditism. 3.3 Chromosomal abnormalities and dermatoglyphics. 3.4 Fragile sites and fragile X syndrome. 4.0 Cytogenetic Implications and Consequences of Structural Changes and Numerical Alterations of Chromosomes: Aberrations of chromosome number Polyploidy, aneuploidy –
SEMESTER – IV Z 404 (Elective) Molecular Cytogenetics – II Credits: 4 Objectives: To apprise the students about chromosomal anomalies and the techniques to detect them clinically in different pathological conditions Outcomes: Awareness the structural and numerical chromosomal anomalies by using banding techniques and the methods used for the diagnosis of the chromosomal aberrations in pathological conditions will be generated. Students will get acquainted human genome project and its applications Note: 1. Nine questions will be set in all. 2. Question No. 1, which will be objective/short answer type covering the entire syllabus, will be compulsory. The remaining eight questions will be set section wise selecting four questions from each section (I & II). The candidate will be required to attempt question No. 1 and four more selecting two questions from each section. 3. As far as possible the questions should be divided into sub-parts and marks indicated part wise. Section – A 1.0 Human Cytogenetics: Human karyotype. Nomenclature for normal chromosomes (ISCN) Variable chromosome features Nomenclature for acquired chromosome aberrations Nomenclature for meiotic chromosomes Species codes. 2.0 Chromosome Banding Techniques and their Applications: Q-banding C-banding G-banding and R-banding T-banding High-Resolution and Replication banding Nuclease banding Molecular correlates of chromosome bands. Functional significance of chromosome bands. 3.0 Numerical and Structural Abnormalities of Human Chromosomes –Syndromes: 3.1 Autosomal syndromes – cat-cry syndrome, Wolf-Hirchhorn syndrome, Trisomy 13, Trisomy 18, Trisomy 21. 3.2 Sex chromosomal syndromes – Turner syndrome, Klinefelter syndrome, XYY, True and Pseudohermaphroditism. 3.3 Chromosomal abnormalities and dermatoglyphics. 3.4 Fragile sites and fragile X syndrome. 4.0 Cytogenetic Implications and Consequences of Structural Changes and Numerical Alterations of Chromosomes: Aberrations of chromosome number – Polyploidy, aneuploidy