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HUMAN GENETICS
OUTLINE
1. The principle of medical genetics
2. Genetic Disorders
3. Single-gene Disorders
4. Chromosome Disorders
5. Multifactorial Disorders
Medical Genetics
Spesialisasi di bidang medik yang berkaitan dengan
diagnosis, treatment dan penanganan kelainan herediter
Berada pada garis terdepan penelitian-penelitian mengenai
sifat-sifat herediter dan keanekaragaman manusia
bersama-sama dengan cabang ilmu lain seperti biokimia,
biologi molekuler dan biologi sel.
Human Genome Project : menentukan urutan/isi dari
genom manusia secara lengkap menentukan variasivariasi gena yang berperan dalam kondisi sehat dan sakit.
Pediatric Genetics
Pada awalnya, genetika manusia fokus pada
kasus penyakit genetik yang terdeteksi saat
masa anak-anak (pediatric genetic)
Sekarang, genetika manusia diaplikasikan pada
berbagai bidang ilmu
Royal
Hemophilia
Chromosome
Map
Genetic Disorders
Virtually any disease is the result of the
combined action of genes and environment, but
the relative role of the genetic component may
be large or small
Disorders caused wholly or partly by genetic factors can be
divided into three main types :
1. Single-gene disorders
2. Chromosome disorders
3. Multifactorial disorders
Applications
1.
2.
3.
4.
5.
6.
7.
8.
Nutrigenomic
Pharmacogenomic
Immunogenetic
Oncogenetic
Sport genetic
Population genetic
Forensic genetic
etc.
Single-gene Disorders
Caused by individual mutant gene; can be recognized by
family pedigree
Mutation of the genes may be present on only one
chromosome or on both chromosome (dominant or
recessive); on autosom or sex chromosom
Mutation of the genes may be present on nuclear genome
or mitochondrial genome
Mutation of the genes cause a critical error in the genetic
information carried by a single gene
X-Linked Dominant
Inheritance
X-linked Recessive
Inheritance
Chromosome Disorders
Caused by defects in the chromosome segment (heteroploid,
aneuploid, inversion, deletion etc.)
Down Syndrome caused by trisomy chromosome no 21
Overall frequency in population is about 7 in 1000 liveborn
infants and about half of all apontaneous first-trimester
abortion
Triploidy
Chromosome Disjunction
Multifactorial Disorders
Responsible for a number of development disorders resulting
in congenital malformations and for many common disorders
of adult life
The disease is the result of a combination of variation in genes
that together can produce or predispose to a serious defect,
often in concert with environmental factors
Multifactorial disorders tend to recur in families but do not
show the characteristic pedigree patters of single gene
disorders
The frequency is 5% in pediatric population to more than 60%
in the entire population
Nutrigenomics
Pharmacogenomics
Sport Genetics
Prenatal Diagnostics and Counseling
DNA finger printing disaster victim
identification (DVI)
6. Disease risk factor and prediction
7. Etc.
References
Nussbaum RL, McInnes RR, Willard HR. 2007.
Thompson and Thompson Genetics in Medicine
7th Ed. Saunders, Philadelphia.
Strachan T and Read AP. 2004. Human Molecular
Genetics 3rd Ed. Garland Science Publishing,
USA.
Brown, TA. Genomes 3rd Ed. 2007. Garland
Science Publishing, USA.
Assignment
1. Penugasan
2. Ujian Mid
3. Ujian Akhir