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Genetic Disease - Nashua School District

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Genetic Disease
Genetics can contribute to disease process
п‚— Environment can enhance or suppress genetic
п‚— Mutations are natural, random mistakes
п‚— Mutations can be produced unnaturally by exposure
to mutagens like radiation and carcinogenic
п‚— Many mutations go unnoticed because the change is
small and does not affect protein function.
п‚— Some mutations have positive effects on protein
functions, these can be naturally selected by the
environment an increase in frequency in future
Types of mutations
п‚— Deletion: a piece of a chromosome is lost
п‚— Duplication: A piece remains attached after meiosis,
leaving the gamete with 2 alleles for a gene
п‚— Inversion: a piece reattaches to a chromososme in
п‚— Translocation: a piece of a chromosome ends up on
a completely different (wrong) chromosome
п‚— Gene rearrangement: an entire gene moves to a
different chromosome
Other types of genetic change
п‚— Non disjunction: During meiosis
chromosomes fail to separate
properly, leaving some gametes
with too many chromosomes,
and some with too few.
п‚— Polyploidy: Non disjunction of
all chromosomes, resulting in a
doubling of the chromosome
п‚— 30-80% of plant species are
Pedigree charts- tracking a disease through time
Genetic Diseases found on autosomes
—Some well known examples
п‚— Recessive alleles:
п‚Ў Albinism
п‚Ў Cystic fibrosis
п‚Ў Galactosemia
п‚Ў Phenylketonuria (PKU)
п‚Ў Tay Sachs Disease
п‚— Dominant Alleles:
п‚Ў Achondroplasia
 Huntington’s disease
п‚Ў Hypercholesterolemia
п‚— Codominant Alleles:
п‚Ў Sickle Cell Disease
п‚— An example of Repetition mutation (autosomal):
 Myotonic Muscular Dystrophy –a repeated section of DNA on either
chromosome 19 or 3
Genetic disease found on sex chromosomes
п‚— Duchennes Muscular dystrophy- x linked recessive
п‚— Colorblindness- x linked recessive
п‚— Hemophilia-x linked recessive
п‚— Fragile X syndrome x linked recessive
п‚— Hyphophophatic rickets- x linked dominant
 Rett’s syndrome-x linked dominant
Genetic Disease caused by nondisjunction
 Down’s syndrome Triosomy 21-extra chromosome #
 Turner’s Syndrome- XO infertility, undeveloped sex
п‚— Klinefelters syndrome XXY, XXXY, XXXXY
infertility, underdeveloped testes
п‚— XYY syndrome weak muscle tone, behavioral and
learning disabilities
A few more…
 Marfan’s syndrome
п‚— Hemochromatosis
п‚— Breast Cancer
п‚— Alzheimers
Mitochondrial genetic disorders:
п‚— myoclonus epilepsy with Ragged Red Fibers
п‚— mitochondrial encephalopathy, lactic acidosis
п‚— Leber's hereditary optic atrophy
Human Genome Project
An ongoing global effort to analyze the human gene
So far they know:
п‚— About 25,000 gene locations
п‚— The base pair sequences
п‚— The location of DNA repeats between genes
 The location of the genetic “culprit” involved in many
genetic diseases
Human Genome Project is ongoing
п‚— NCBI
п‚— Scientists use open databases to further research
Adrenoleukodystrophy ALD X Alzheimer disease, type 3 AD3 14 Alzheimer disease, type 4 AD4
1 Amyotrophic lateral sclerosis SOD1 21 Apolipoprotein E APOE 19 Ataxia telangiectasia ATM
11 Breast cancer, type 1 BRCA1 17 Breast cancer, type 2 BRCA2 13 Burkitt lymphoma MYC 8
Colon cancer, nonpolyposis, type 1 MSH2 2 Colon cancer, nonpolyposis, type 2 MLH1 3 Cystic
fibrosis CFTR 7 DiGeorge syndrome DGS 22 Diastrophic dysplasia DTD 5 Duchenne muscular
dystrophy DMD X Ellis-van Creveld syndrome EVC 4 Gaucher disease GBA 1 Gyrate atrophy of
the choroid and retina OAT 10 Harvey ras oncogene HRAS 11 Huntington disease HD 4
Juvenile onset diabetes IDDM1 6 Long QT syndrome LQT1 11 Malignant melanoma CDKN2 9
Marfan syndrome FBN1 15 Menkes syndrome ATP7A X Multiple endocrine neoplasia MEN2A
10 Myotonic dystrophy DM 19 Neurofibromatosis, type 2 NF2 22 Obesity OBS 7
Phenylketonuria PAH 12 Polycystic kidney disease PKD1 16 Retinoblastoma, type 1 RB1 13
Severe combined immunodeficiency ADA 20 Small cell lung carcinoma SCLC1 3
Spinocerebellar atrophy SCA1 6 Steroid 5-alpha-reductase-1 SRD5A1 5 Suppressor of pancreatic
carcinoma DPC4 18 Testis-determining factor TDF Y Tuberous sclerosis TSC1 9 Tumor
suppressor protein p53 TP53 17 Von Hippel-Lindau syndrome VHL 3 Waardenberg syndrome
PAX3 2 Werner syndrome WRN 8 Wilson disease ATP7B 13 X-linked mental retardation FMR1
X Zellweger syndrome PXR1 12
Got Ethics?
п‚—What ethical questions
need to be considered as
genetic research
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