(F) Complex Mutagenic Disorders and Other Cytogenetic Phenomena Flashcards
He is a founder of?
Eugenics
Who is the founder of Eugenics?
Sir Francis Galton
the study of the physical and mental improvement of human race
Sir Francis Galton
Eugenics talaga ‘yon mali ko
Manual-based
He studied the inheritance of traits and observed what he called “blending” characters which is now known as quantitative traits or continuous variation, referring to gradation in phenotypic expressions wherein the phenotypes do not fall into distinct categories.
Sir Galton
manual-based
The quantitative traits or continuous variation, refers to what in phenotypic expressions wherein the phenotypes do not fall into distinct categories.
gradation
Manual-based
TOF. Some traits with multifactorial inheritance do not have gradations, “nonblending traits” or traits with discontinuous variation.
T
e.g., human ABO blood antigen system, round or wrinkled peas
DISORDERS WITH MULTIFACTORIAL INHERITANCE
It is an interaction between (2)
variant forms of genes and
environmental factors
DISORDERS WITH MULTIFACTORIAL INHERITANCE
TOF. It is a combination of genetic, environmental, and lifestyle factors, most of which have not yet been identified.
T
TOF. Complex genetic disorders develop when few polymorphisms are inherited, each of which vary minimally.
F
Mutagenics only develop when numerous poly are inherited, each of which vary in significance.
DISORDERS WITH MULTIFACTORIAL INHERITANCE
TOF. many polymorphisms, each with a modest effect and high penetrance
F (low penetrance)
u like dat
A genetic variant that has at least two alleles and occurs in at least 1% of the population
Polymorphism
the individual has a genetic susceptibility to develop a certain disease but does not mean that he is destined to have the disease.
Genetic predisposition
Complex Multigenic Disorders/ Multifactorial Inherited Disorders
TOF. Although he has the ability to prevent or eradicate the onset of the disorder.
F (one cannot change his genes, he can delay or prevent the onset of the disorder.)
Alzheimer’s disease, osteoporosis, asthma, multiple sclerosis, Parkinson’s disease, and many more that occuris during aadulthood
Multigenic Disorder
TOF. No clear Mendelian pattern of inheritance, occur in isolation, with familial aggregation
T
TOF. Environmental influence can increase or decrease the risk of the disease.
T
TOF. Concordance rate between monozygotic and dizygotic twins CONTRADICT Mendelian proportion
T
contradicts to the mendelian pattern of inheritance kasi it has no distinct category
TOF. Occurs more frequently in one gender than in the other, hence, it is a sex limited trait.
F (but not sex-limited trait)
Multigenic Disorders
TOF. Occur rarely in a specific ethnic group
F (more frequently)
TOF. The chances of having the disease is highest when a person has no genetic factors but has exposure to the environmental factor for the disease.
F (highest when contains both genetic factors and exposure to the envi factor)
DUHH
Set of autosomal recessive disorders that were originally grouped together because of the common finding of chromosome instability or fragility
Breakage Syndromes
Breakage Syndromes
DNA repair gene defect -> breakage or increased recombination -> chromosome instability and widespread mutation and defect in DNA sequences -> LEADS TO??
cancer
Breakage Syndromes
which does not belong:
A. Ataxia Telangiectasia
B. Cocky Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
B (Cockayne Syndrome)
Breakage Syndromes
Cytogenetic manifestation: Increased chromosome breakage detected by treatment with mitomycin C and diepoxybutane
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
D
Group A: 16q24.3 Group C- 9q22.3 Group D- 3p22-p26 Group E- 6p21-p22 Group B, F, H unmapped
Cytogenetic manifestation: Increased sister chromatid exchange in response to UV light or BrdU incorporation
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
C
15q26.1
Cytogenetic manifestation: Increase in SCE and chromosome rearrangement in response to UV light
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
E
Incidence: 1:250,000
A: 9q22.3
C: 653p25
D: 19q13.2-q13.3
E: 11p11-p12
F:others
Cytogenetic manifestation: Increased spontaneous breakage, increased rings, triradials, and translocations, particularly with 7 and 14, induced with bleomycin or ionizing radiation
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
A
11q22.3
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
sakit mo yung pinili mo
Cytogenetic manifestation: UV sensitivity
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
B
Type of cancer: Increased risk of AML, and progressive bone marrow failure
Clinical features: Pancytopenia, pre-or postnatal growth retardation, hypoplastic or missing thumbs, possible arm deformation, brownish pigmentation of skin
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
D (Gene locus: various; FANCA-G gene)
Defect: Abnormal DNA ligase 1 activity
Clinical features: Growth retardation, butterfly rash on face, possible malignancy
Type of cancer: various
Miscellaneous: High frequency in Ashkenazi Jewish population;1:110 carrier frequency
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
C (Gene locus: 15q26.1, BLM gene)
Clinical features: Ataxia with degeneration of CNS, telangiectasia on face, deficiency in cellular immunity, degenerative, growth retardation
Type of cancer: Various leukemias and solid tumors
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
A (Gene locus: 11q22.3; ATM gene)
DNA Repair Defect: 1) lack of excision of thymine dimers; 2) Postreplication repair defect
Clinical features: Sensitivity to sun, neurological abnormalities, ataxia and spasticity
Type of cancer: Increased incidence of skin cancer
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
E (Gene locus: Incidence: 1:250,000; XPA-G & POLH gene)
Defect: possible DNA ligase deficiency or defect of transcription coupled repair
Clinical features: dwarfism, premature aging, microcephaly, neurologic deficit, pigmentary degeneration, deafness, sensitivity to sunlight, MR
Type of cancer: increased incidence of skin cancer
A. Ataxia Telangiectasia
B. Cockayne Syndrome
C. Bloom Syndrome
D. Fanconi Anemia
E. Xeroderma Pigmentosa
B (Gene locus: chromosome 5)
Fanconi Anemia
Current therapy:
bone marrow transplantation
Cytogenetics and Genome Research
what has cytogenetic technology newly uncovered?
microdeletions
method of syndrome identification is currently undergoing exciting development because of cytogenetic arrays (whole genome cytogenetic arrays)
“genotype first”
Cytogenetics and Genome Research
TOF. can be used for children with unexplained developmental abnormalities.
T
Cytogenetics and Genome Research
Tailored approaches to preventing and treating complex disorders based on genetic personalization of drug is done through the study of?
pharmacogenetics (single-drug interactions) and pharmacogenomics (study of many genes and their interactions with drugs)
Molecular Cytogenetics
This diagnositic may become the most powerful tool for the diagnosis and screening of human diseases.
TOF
T
This can predict which patients will response to certain drug and not, and who will manifest adverse effects are looked for.
Biomarkers
Molecular Cytogenetics
TOF. its ability to diagnose disease both prenatally and pre- symptomatically confers it a secondary role in preventive medicine.
F (primary)
CONGRATS TAPOS KA NA
pero assess mo muna sarili mo, labyu pa rin so proud!
