Home > Uncategorized > Introduction to Human Anatomy Lecture 82 Notes: Genetic Diseases

Introduction to Human Anatomy Lecture 82 Notes: Genetic Diseases


We’ll study some genetics today for 42 minutes. 



A sperm or an egg only has 23 chromosomes.  22 are autosomes, 1 is a sex chromosome.  In man, the haploid number is 23 and the diploid number is 46. 

The zygote is the first body or sex cell or germ/germanal cells.  Eventually, there will be 60 trillion somatic cells.  All somatic cells are clones.   

Half of the sperm have an X, half of the sperm has the Y.  A female is XX, a man is XY.  Each sex cell is unique. 

A karyotype is a graph of all the chromosomes in the nucleus. 

Mitosis is the process of making more somatic cells.  Meiosis makes more sex cells. 

Sperm is made in the testis, ovums in the ovaries.  There are 23 homologous pairs of autosomes. 

Chromosomal Abnormalities usually have chromosomes missing or added. 

Down Syndrome is caused by an extra autosome.  Open mouth with protruding tongue, traint hair, short stocky build, mental retardation.  An extra chromosome 21.  The test is amniocentisis – the fluid from the sac.  CVS chorionic

After the age of 40, more babies to a woman will have birth defects and Down syndrome increases dramatically. 

2000 genes on each chromosome.  Each gene is an instruction for making one protein.  Antibodies are proteins made by B lymphocyte WBCs.  Some proteins act as hormones or enzymes.  Glucagon raises blood glucose levels. 

On chromosome 11, p53 gene there is a cancer gene. 


Kingdoms – monera, protista, fungi, plant, animal

HSbF6 pKa = 25

Electrophiles are positive, nucleophiles are negative

EDTA is a tetraprotic acid.

Activators donate electrons to the ring, deactivators take electrons from the ring

Acetone pKa = 24.2

H3PO4 pKa = 2.15

Cat hearing – 80 Hz to 80 kHz

NO2 meta director

CH3 OP director

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