Hit at … http://bisbio.in orCall 09814016083, 09855516083 oremail … bisbioin@gmail.com or amanbiswas60@gmail.com : Hit at … http://bisbio.in orCall 09814016083, 09855516083 oremail … bisbioin@gmail.com or amanbiswas60@gmail.com Learn and enjoy
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Slide 2 : When Genes go wrong Dr Subroto Biswas
Karyotype : Karyotype
Different kinds of euploids : Different kinds of euploids
Aneuploidy : Aneuploidy Three types
(basis of the number of copies of the specific chromosome in the aneuploid state)
1. Monosomy
2. Trisomy
3. Nullisomy
Various aneuploids conditions resulting into monosomy, tri somy or nullisomy. : Various aneuploids conditions resulting into monosomy, tri somy or nullisomy.
HUMAN GENETIC DISORDERS : HUMAN GENETIC DISORDERS
Slide 10 : Human genetic disorders
Down
Alzeimers
Edward
Patau
Cri di chat
Philadelphia
Turner
Super male and female
Klinefelter
Haemolytic disease
Single gene disorders
Multiple gene effects
Slide 11 : Known 3000 human genetic disorders
Mostly caused by gene or chromosomal alternation (notation).
Slide 12 : Estimates
One in every 200 babies born are with a chromosomal abnormality
Slide 13 : Almost 50-60% of all miscarriages are due to chromosome disorder.
Eugenics : Eugenics Coined by Sir Francis Galton in 1883
‘Eugene' means "wellborn".
AMNIOCENTESIS : AMNIOCENTESIS
Should as habitual drunkards, idiots, feeble-minded, insane persons, epileptics marry and produce children ? : Should as habitual drunkards, idiots, feeble-minded, insane persons, epileptics marry and produce children ?
Slide 17 : Eugenics
Restriction on marriage or production of defective children : Restriction on marriage or production of defective children There should be selective marriages and it should not be among undesirable persons.
EUPHENICS ? : EUPHENICS ? Deals with the control of many inherited human diseases.
Symptomatic treatment of human genetic diseases = euthenics.
Euthenics is the treatment of hereditary diseases on an individual basis
Or rather to care for a phenotypic expression.
Slide 20 : EUPHENICS Traditional medical therapy for a genetic disease
Gene therapies
Controlling phenylalanine to a child having phenylketonuria is an example of euthenics.
Slide 21 : Example
Use of an antihaemophilic factor for the treatment of the persons with very low concentration clotting factor
Slide 22 : Example
Treatment of Diabetes mellitus with insulin.
Insulin is made through genetic engineering
Does the Y Chromosome select cars ? : Does the Y Chromosome select cars ?
Y linked : Y linked
HUMAN GENETIC DISORDERS : HUMAN GENETIC DISORDERS Mostly due to non-disjunction of chromosomes during meioses in gamete formation
Non disjunction ? : Non disjunction ?
BLACK URINE DISEASE : BLACK URINE DISEASE The relationship between genes and proteins
First proposed in 1909 by English Physician Archibald Garrod
Genes dictate phenotypes through enzymes
These inherited disease were referred as "inborn errors of metabolism."
Slide 28 : In alkaptonuria, the urine appears dark red because it contains a chemical called alkapton.
Normal individuals have an enzyme that breaks down alkapton, whereas alkaptonuric individuals lack the enzyme
What is DOWN SYNDROME ? : What is DOWN SYNDROME ? Named after L. Down
First described the phenotypes in 1866.
The cause was uncovered in 1958
The first recognized human condition associated with aneuploidy.
Trisomic for chromosome 21
(or trisomy 21).
Down syndrome : Down syndrome
Down syndrome girl : Down syndrome girl