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Introduction to medical Genetic

Down syndrome is a chromosome disorder of which chromosome? Extra copy of Chromosome 21
Give two examples of a single-gene defect. Cystic Fibrosis Sickle cell anemia
What is one example from the power point of a Multifactorial inheritance genetic disorder? Alzheimer's Disease
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
What is a unit of genetic information encoded in the DNA? Gene
Alleles are what kind of versions of a gene? Alternative
What is term refers to as; position occupied by a gene on a chromosome? Locus
What are 2 types of chromosomes? 1. Autosomes - nuclear chromosomes other then the sex chromosomes 2. Sex Chromosomes - XY or XX
Humans have how many pairs of nuclear chromosomes referred to as Autosomes? 22
When are chromosomes most visible? 1. Metaphase or 2. Prometaphase
How are chromosomes distinguished? Chromosomes are distinguished by their length and the location of the centromere
What is the study of the structure of chromosomes and their inheritance? Cytogenetics
What type of cell division produces 2 daughter cells, each with genes identical to the parent cell Mitosis - Somatic cell division 46 Chromosomes
What type of cell division produces gametes? Meiosis - Germline cell division 23 chromosomes
During the cell cycle what 3 phases happen during the interphase? G1 - phase S - phase G2 - phase
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
How many stages are there in Mitosis? 5
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
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.
What phase in not involved b/t Meiosis 1 and 2? S-Phase
How long does Spermatogenesis take? 64 days
Oogenesis: Primary oocytes remain arrested in Prophase 1 until when? Ovulation
Oogenesis: Meiosis 2 proceeds to metaphase during ovulation and is only completed if what occurs? Fertilization by sperm.
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
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
RNA Transcription and RNA processing and splicing happen in the nucleus or cytoplasm? Nucleus
RNA Translation and protein assembly process occur where in the cell? Cytoplasm
A codon contains how many base sequences? Condon = 3 base sequence
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.
What is "Central Dogma" of molecular Biology? DNA > RNA > Protein
Created by: cmuox2000