Introduction to Human Genetics
| Numbering Code | P-PUB01 8H040 LJ90 | Year/Term | 2022 ・ First semester | |
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| Number of Credits | 2 | Course Type | Lecture | |
| Target Year | Professional degree students | Target Student | ||
| Language | Japanese | Day/Period | ||
| Instructor name | KOSUGI SHINJI (Graduate School of Medicine Professor) | |||
| Outline and Purpose of the Course |
[Basic information] Class date and time: 3rd period on Wednesdays (there may be exceptions) Classroom: Building G, 3rd floor, Seminar room Level: Basic Staff in charge: Shinji Kosugi, Takahito Wada, Ken Nakajima, Takahiro Yamada [Course overview] Lectures about the most basic matters for those who intend to work as genetic counselors or in the field of medical genetics/genetic medicine. It is also important for tailor-made treatment based on genetic information expected in the future. This course is composed of systematic lectures about cytogenetics, molecular genetics, Mendelian genetics, non-Mendelian genetics, and population genetics. |
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| Course Goals | Having a complete understanding of the basics of human genetics and being able to explain it to non-specialists in a concise manner. | |||
| Schedule and Contents |
[1st lecture] 4/13 [Wada 1] General Theory of Mendelian Genetics and How to Draw Family Trees: General theory of Mendelian and non-Mendelian genetics, autosomes and sex chromosomes, the concept of alleles, the concept of hereditary diseases, and how to draw family trees. [2nd lecture] 4/13 4th period [Kosugi 1] Autosomal Dominant/Recessive Inheritance: The concepts of autosomal dominant diseases, their characteristics, penetrance, expressiveness, hereditary and de novo mutation, and anticipation (next-generation expression promotion phenomena); the concept and characteristics of autosomal recessive diseases; and the concept of carriers. [3rd lecture] 4/13 5th period [Kosugi 2] X-linked inheritance: The concept of X-linked inheritance, the specificities of the X and Ｙchromosomes, gender determination mechanisms, and specific diseases that show X-linked inheritance. [4th lecture] 4/13 6th period [Yamada 1] Cytogenetics (1) Chromosome and cell division, chromosome analysis by banding, method of karyotyping chromosomes, and an introduction to chromosome abnormalities. [5th lecture] 4/20 (First clinical auditorium) [Kosugi 3] Pharmacogenetics: Understanding the basics of pharmacogenetics/pharmacogenomics, the most important area of (already-starting) tailor-made treatment. [6th lecture] 4/20 5th period [Yamada 2] Cytogenetics (2) The concept of chromosome numerical abnormality and generation mechanisms; the concept of chromosomal structural abnormality and generation mechanisms; and the concept of carriers and effects on the next generation. [7th lecture] 4/27 6th period [Wada 2] Estimation of genetic risks: Learn about estimation recurrence and Bayes' theorem. [8th lecture] 5/11 [Nakajima 1] Genetic testing (1) PCR, Sequencing and Southern blotting. [9th lecture] 5/18 [Kosugi] Genetic testing (2) How to screen for mutations, mutations and polymorphisms, and types of mutations. [10th lecture] 5/25 [Wada 3] Multifactorial inheritance and population genetics: Learn about the concept of multifactorial inheritance, quantitative and qualitative traits, and the Hardy?Weinberg principle. [11th lecture] 6/1 [Yamada 3] The Basics of the Human Genome: Learn about human genome information, including gene structure, functions, and genetic diversity in detail. [12th lecture] 6/8 [Wada 4] Non-Mendelian Genetics (1) Learn about mitochondrial inheritance. [13th lecture] 6/15 [Nakajima 3] The Basics of Tumor Genetics: Somatic cell variants and germline variants, oncogene and anti-oncogene, and hereditary cancer syndrome. [14th lecture] 6/22 [Wada 5] Non-Mendelian Genetics (2) Learn about epigenetics. [15th lecture] 6/29 [Yamada 4] The Basics of Molecular Genetics: PCR, next generation sequencing, and microarray. 7/6 Written test 7/27 Retest Written test |
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| Evaluation Methods and Policy | Comprehensive evaluation of tests, reports, presentations, attendance, and other activities. | |||
| Course Requirements |
Compulsory subject for first-year students, graduating from non-medical college/university, in the Genetic Counselor Course Caution; students, graduating from medical college/university, should take "Introduction to Human Genetics" If taken as an elective, we recommend taking it along with “Genetic Medicine and Ethics/Society” Availability for students majoring in Human Health Sciences: Contact us in advance |
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| Study outside of Class (preparation and review) | Instructions will be given accordingly | |||
| Textbooks | Textbooks/References |
Thompson & Thompson Genetics in Medicine (2nd Ed.) (Medical Science International) ISBN: 978-4-89592-875-5, April 2017, Edited by Yoshimitsu Fukuyama Genetic Counseling Manual (Revised 3rd Edition) (Nankodo) ISBN:978-4-524-26667-8 Rinsyo Idenn Senmonni Text 1 Rinsyo Idengaku Soron (Shindan to Chiryo sya) ISBN: 978-4787823670 |
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| References, etc. |
Norio Niikawa Iden Igaku e no Shotai (Revised 6th Edition) (Nankodo) ISBN:978-4-524-24931-2, |
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| Related URL | http://www.geneclinics.org/ (GeneReviews) | |||
