5/27/2009

Genetic pathology
Prophylaxis of genetic diseases
genetic counselling
Prenatal diagnistic

HUMAN PATHOLOGY
Congenital Acquired

Non-hereditary
Non-hereditary
Genetic disorders

Gene Chromosomal

Monogenic Polygenic Number Structural

Mitochondrial Adult diseases 2n+1 Partial

Dynamic 2n-1 aneuploidy

50% of miscarriages have chromosomal

errors; Effect of pathologic mutations
2-3% of newborns have malformations; Mutations may cause diseases or predispositions to
diseases;
0,6% of newborns have chromosomal Effect of mutations depends on:
aberrations; Function of encoded protein;
Type of encoded protein;
50% of children with mental retardation Degree of phenotypic manifesttaion;
have genetic abnormalities; Interaction with other genes;
% of affected cells;
40-50% of infantile mortality is determined Origin of mutation.
by genetic disorder;

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Diseases associated with lost of function:

Diseases associated with acquired mutant
FH familial hypercolesterolemia 1:500

absence of LDL receptor; proteins:
PKU; Alzheimer disease production of a toxic
Lysosomal diseases
protein
Diseases associated with acquired function: Cancers
Charcot-Marie-Tooth digenesis of peripheral
nervous system;
Achondroplasy permanent activity of receptors in
fibroblasts

Frequency of genetic diseases

Disease Frequency Type of inheritance BOLI CU PREDISPOZIIE EREDITAR
FH 1:500 AD
ADPKD 1:1000 AD Anomalii congenitale Bolnavi, la 1000 oameni
1:1250 ( ) Displazia buzei i palatinului 12
X-fragile X-linked
1:2500 ( )
Stenoza pilorului 0,5 3
Cystic fibrosis 1:1600 1:3000 AR
Picior plat 5
Neurofibromatosis 1:4000 AD
Duchenne-Backer muscle dystrophy 1:3000 1:5000 X-linked, recessive Boli psihice i nervoase:
Marfan syndrome 1:10000 AD schizofrenia 10 20
PKU 1:10000 AR epilepsia 8 10
Down syndrome 1:700 1:800 Trisomy 21
Boli de vrst medie:
Patau syndrome 1:5000 1:7000 Trisomy 13
Klinefelter syndrome 1:500 1:750 Gonosomal polysomy Psoriazis 10 20
Triplo-X syndrome 1:1000 Gonosomal polysomy Astm bronic 25
Disomy Y 1:1000 Disomy Y Boala hipertonic 1000 2000
Turner syndrome 1:2000 1:5000 Monosomy X Boala coronarian 50 - 100

Hypoplasy of dental enamel (HDE)

Disease Teeth colour Type of
inheritance
HDE determined by abnormal structure:
Point white AD

Local brown AD

Smooth AD

Rough white AD

Rough AR

Smooth Yellow-brown X- linked

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Prophylaxis of genetic diseases

Primary Secondary Genetic counselling
Avoiding of birth of Correction of genetic
children with genetic disorders
disorders

Genetic counselling - identification of risks

Reducing mutagenesis; Therapy during pregnancy; for disease in a family
Interruption of Avoiding of factors in case
pregnancy in case of of predisposition;
abnormal development; Genetic counselling;
Preimplantation Prenatal diagnistic;
diagnosis Neonatal screening

Indications for genetic counselling

Necessity of genetic counseling
Premarital Postmarital
High rate of mutations At least one of parents has Child with genetic disease;
genetic disease; Repeated miscarriages;
High level of morbidity caused by genetic Affected relatives in family; If women:
disorders consanguinity; Use drugs;
Persons who contact Had infectious disease;
Modern medicine allow people affected by mutagens; Used radiography
Mother older that 35
genetic diseases to have children

Methods used in prenatal diagnostic Chorionocinthesis

USG
Karyotyping
Barr body test
DNA analysis
FISH
Biochemical analysis

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Analysis of amniotic liquid Gene therapy