Introduction to medical Genetic
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| Down syndrome is a chromosome disorder of which chromosome? | Extra copy of Chromosome 21
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| Give two examples of a single-gene defect. | Cystic Fibrosis
Sickle cell anemia
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| What is one example from the power point of a Multifactorial inheritance genetic disorder? | Alzheimer's Disease
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| What are 3 classification of Genetic Disorders? | 1. Chromosome Disorders - Down Syndrome
2. Single-Gene defects ex. Sickle cell Anemia
3. Multifactorial Inheritance - ex. Alzheimer's disease
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| What is a unit of genetic information encoded in the DNA? | Gene
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| Alleles are what kind of versions of a gene? | Alternative
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| What is term refers to as; position occupied by a gene on a chromosome? | Locus
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| What are 2 types of chromosomes? | 1. Autosomes - nuclear chromosomes other then the sex chromosomes
2. Sex Chromosomes - XY or XX
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| Humans have how many pairs of nuclear chromosomes referred to as Autosomes? | 22
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| When are chromosomes most visible? | 1. Metaphase
or
2. Prometaphase
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| How are chromosomes distinguished? | Chromosomes are distinguished by their length and the location of the centromere
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| What is the study of the structure of chromosomes and their inheritance? | Cytogenetics
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| What type of cell division produces 2 daughter cells, each with genes identical to the parent cell | Mitosis - Somatic cell division
46 Chromosomes
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| What type of cell division produces gametes? | Meiosis - Germline cell division
23 chromosomes
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| During the cell cycle what 3 phases happen during the interphase? | G1 - phase
S - phase
G2 - phase
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| What phase during the cell cycle does replication of each chromosome of one chromatid form 2 sister chromatids that attached at the centromere? | S-Phase
Takes 6-8 hours
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| How many stages are there in Mitosis? | 5
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| Name the five stages of Mitosis. "My 5 Toes-is are near PP-MAT" | Prophas - Chromosome condensation
Prometaphase- nuclear membrane breaks
Metaphase- Chromo align
Anaphase- Chromo separate at
Centromere
Telophase- Chromo decondense and nuclear membrane starts to reform around 2 daughter nuclei
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| In meiosis 1 (reduction division), in what phase could a possilble error occur "nondisjunction"? | Anaphase 1 - this is the when Disjunction occurs and 2 members of each bivalent move to opposites poles of cell (random assortment of homologues). non-disjunction is possible and would cause an error.
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| What phase in not involved b/t Meiosis 1 and 2? | S-Phase
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| How long does Spermatogenesis take? | 64 days
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| Oogenesis: Primary oocytes remain arrested in Prophase 1 until when? | Ovulation
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| Oogenesis: Meiosis 2 proceeds to metaphase during ovulation and is only completed if what occurs? | Fertilization by sperm.
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| Deoxyribonucleic Acid (DNA) has 4 base, which two make up the Prrimidine bases and whcih two make up the Purine bases? | Pyrimidine bases: Thymine & Cytosine
Purine bases - Adenine & guanine
C & G / T & A
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| Ribonucleic Acid (RNA) also has 4 bases, but one of the pyrimidine bases is different, which one changes? | Thymine (DNA) changes to Uracil (RNA) and bind with A - Adenine
C & G / U & A
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| RNA Transcription and RNA processing and splicing happen in the nucleus or cytoplasm? | Nucleus
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| RNA Translation and protein assembly process occur where in the cell? | Cytoplasm
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| A codon contains how many base sequences? | Condon = 3 base sequence
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| Transcription synthesis occur in what direction? | Synthesis occurs in a 5' to 3' direction. Remember that 5' end is considered to be the "PROMOTER" and regulates the initiation of transcription.
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| What is "Central Dogma" of molecular Biology? | DNA > RNA > Protein
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