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1

What are autosomes?

22 of the 23 pairs of human chromosomes are “autosomes”

2

Sex Chromosomes

1 of the 23 pairs of human chromosomes

3

Chromosome 21

Down syndrome

4

Henderson Hasslebach Equation?

pH = pKa + log [A-] / [HA]

5

How do you find pKa?

pKa = -log (5.6 x 10^-10)

6

Chromosome 13

Patau Syndrome

7

Chromosome 18

Edwards Syndrome

8

Missing X chromosome

Turner Syndrome

9

Females with extra X chromosome

Trisomy X

10

Makes with extra Y chromosome

XYY syndrome

11

What are EH?

encode proteins that metabolize cyclic ether compounds

12

What are G6DP?

Encodes for the cytosolic enzyme that catalyzes the reaction

13

Proteomes?

The entirety of proteins in existence in an organism throughout its life cycle. (Also in stimulations).

14

Genotype?

Collection of alleles in a persons chromosome

15

Genes?

Working subunits of DNA that contain a code for a specific product (usually a protein) and instructions for making cells and what goes on inside them.

16

Phenotype?

Set of observable characteristics of an individual resulting from the interaction with the environment.

17

Metabolome?

Represents the collection of all metabolites in a biological organism.

18

Codon?

A sequence of three nucleotides that together form a unit of genetic code in a DNA/RNA molecule.

19

Base pairs of DNA?

ATCG: Adenine, Thymine, Cytosine, Guanine.

20

Base pairs of RNA?

AUCG: Adenine, Uracil, Cytosine, Guanine.

21

Which ethnic group does Tay sachs affect?

Eastern Jewish

22

What is Tay Sachs?

Abnormal lipid metabolism.

23

Which ethnic group does Sickle Cell Anemia affect?

African, African-American, Mediterranean

24

What is sickle shaped anemia?

Sickle shaped RBC, and hemoglobin formation is abnormal.

25

Diet

Genes respond to different phenotypes and nutrients.

26

Benefits of newborn screening?

Can track levels of phenylalanine, which high levels can cause buildup in the serum.

27

Which chromosome is affected by cystic fibrosis?

Chromosome 7.

28

What causes Down's Syndrome?

Extra chromosome 21 (Trisomy 21).

29

Diseases related to multifactorial inheritance?

-Alzheimers
-Heart disease
-Intelligence
-Schizophrenia
-Neural tube defects.

30

How is pH regulated by the lungs and kidneys?

Lungs release Carbonic Acid and Kidneys release bicarbonate.