Genetics &

Gametogenesis
By: Tiyas Kusumaningrum

Faculty of Nursing, Maternity Nursing

Department-2012

Genetics
History

of Genetics
Human Chromosome
Human DNA & RNA
DNA replication
Gene expression
Mutation
Genetic diseases
Nurse roles in a genomic era
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Gametogenesis
Cell

division
Spermatogenesis
Oogenesis
Embryogenesis

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Genetics

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History of Genetics
Gregor mendel Heredity
1867 Meischer DNA as Nuclein
1882 Walther Fleming human
chromosomes
1953Watson and Crick DNA
structure
1990 US Ari Patrinos Human
Genome Project complete in 2003
1865

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Human chromosome

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Human Chromosome
DNA into
Chromosome

Composed of DNA, histones (a

basic protein), nonhistone
(acidic) proteins, and a small
amount of ribonucleic acid
(RNA).
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Human DNA & RNA

DNA
(deoxyribonucleic
acid) and RNA
(ribonucleic acid)
consists of sugar
units linked by
phosphate groups

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Human DNA & RNA

Nitrogenous bases
attached to sugar
and phosphate form
nucleotide:
purines

bases are
adenosine (A) and
guanine (G)
pyramidine bases
are cytosine (C) and
thymine (T/U in
RNA).
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DNA Replication

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Gene Expression
2n

organisms have a
A
chromosome received
B
from each parent
(homologous
Homologs
chromosomes)
C
These have alleles of
A, B, C & D (A & a, B & From Dad
b, C & c, D & d)
A, B, C & D are at
D
specific loci/locus
From Mom
C is NOT an allele to D;
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nor is A or B
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a
b

Gene
Expression

Epigenetic
mechanism
Ex: methylation

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Mutation
a

change (usually permanent) in the genetic

material de novo (spontaneously), or they
may be inherited.
in a somatic cell affects only the
descendants of that mutant cell.
early in division of the zygotepresent in a
larger number of cells than if it appeared late.
before zygotic division into twinsthe twins
could differ for that mutant gene or
chromosome.
in the germlinetransmitted to all the cells of
the offspring, both germ and somatic cells.
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Mutations

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Effect of Mutation
Loss

of function
Dominant negative effect
Over expression
Gain function

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Genetic Disease

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X-linked Disorder

Cancer Inherited

Single Gene Disorder

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CHROMOSOMA
L DEFECTS

Gene Therapy

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Nurse roles in Genomic

Era
http://www.nchpeg.org/index.ph

p?option=com_content&view=arti
cle&id=94&Itemid=84
http://www.isong.org

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Nursing role
Interviewing

clients with a genetic disorder

Providing health teaching and education
related to genetics and genetic testing
Planning, implementing, administering, or
evaluating genetic screening or testing
programs
Monitoring and evaluating clients with
genetic disorders
Working with families under stress
engendered by problems related to a genetic
disorder
Coordinating care and services for clients
affected by genetic disorders
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Daftar Pustaka
Kingston

HM(2002) ABC of
Clinical Genetics. London. BMJ
Book
Lashley, F(2007) Essentials of
clinical genetics in nursing
practice. New York. Springer
Publishing Company
http://www.nchpeg.org
http://www.isong.org
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Gametogenesis

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Cell division
Mitotic

Division:
1. Prophase
2. Prometaphase
3. Metaphase
4. Anaphase
5. Telophase and Cytokinesis
.Meiotic Division
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Mitotic Division

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Mitotic division

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Meiotic Division

a. Mitotic division
b. Meiotic/Meiosis division
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Spermatogenesis

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Spermatogenesis

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Oogenesis

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Embryogenesis

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Embryogenesis

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Cell Differentiation

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Daftar Pustaka
Barrat

CLR, De Joung CJ(2006)

The Sperm Cell. Cambridge
University Press
Cunningham FG...et al. (2005)
Williams obstetrics 22nd ed.
McGRAW-HILL
http://www.nature.com/scitable/t
opic/cell-biology-13906536
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Faculty of Nursing, Maternity

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