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INTRODUCTION TO

HUMAN GENETICS

Ahmad Hamim Sadewa

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

• Begun in 1990, the Human Genome Project was a
13-year effort. The project originally was planned
to last 15 years, but rapid technological advances
accelerated the completion date to 2003. Project
goals were to
• identify all the approximately 30,000 genes in
human DNA,
• determine the sequences of the 3 billion chemical
base pairs that make up human DNA,

• store this information in databases,
• improve tools for data analysis,
• transfer related technologies to the private
sector,
• address the ethical, legal, and social issues
(ELSI) that may arise from the project.

Medical Genetics (cont’d)
Human Genetics : the science of variation and heredity of
human being
Medical Genetics : deals with the subset of human genetic
variation that is of significance in the practice of medicine
and in medical research, contains many disciplines :
Cytogenetics : study of chromosomes
Molecular and biochemical genetics : study of structure
and function of individual genes
Genomics : study of the genome, its organizations and
functions

Medical Genetics (cont’d)
Population Genetics : study of genetic variation in human
populations and determine factors that determine allele
frequencies
Developmental Genetics : study of the genetic control of
human development
Clinical Genetics : the application of genetics to
diagnosis and patients care

Kepentingan Mempelajari Genetika Manusia
1. memahami fungsi gen sebagai dasar proses
kehidupan
2. memahami peran gen dalam kondisi sehat dan
sakit
3. Mengetahui distribusi suatu alel dalam populasi
4. Mengetahui fenotip yang muncul akibat mutasi
dan polimorfisme
5. Memahami interaksi gen-gen dan genlingkungan
6. Memahami peran gen pada kanker dan proses
degeneratif
7. Diagnosis prenatal dan skrining populasi dan
terapi (DNA fingerprinting)

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

Single-gene Disorders (cont’d)
The frequencies are rare, the highest is as much as one
in 500 individuals (1:500). But, taken together in whole
population, overall frequency is around 2%.
Total frequency among population is 0.36%, among
hospitalized children is 6 – 8%.
Single-gene disorders in Indonesia : Thalassemia,
Dystrophia Musculorum Duchenne (DMD), Glucose-6
phosphate Dehidrogenase (G6PD) Deficiency

Autosomal Dominant Inheritance

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

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
E.g. hypertension, diabetes mellitus

Other application of Human Genetics
1.
2.
3.
4.
5.

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