Human genetics

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A karyotype of a human male, showing 46 chromosomes including XY sex chromosomes.
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A karyotype of a human male, showing 46 chromosomes including XY sex chromosomes.

Humans (Homo sapiens) are a eukaryotic species. A human has 46 chromosomes (44 autosomes and 2 sex chromosomes, with an XY sex determination system). At present estimate, humans have approximately 20,000-25,000 genes . Humans share 98.5% of their DNA with their closest living evolutionary relative, the bonobos.

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[edit] Chromosomes

Humans have 46 chromosomes, arranged in pairs (i.e. they are diploid). 44 (22 pairs) of these are autosomes, and 2 are sex chromosomes. Humans have an XY sex determination system, so that females have the sex chromosomes XX and the males XY. The Y chromosome is shorter than the X chromosome, so that males are hemizygous over this region. X-linked recessive genes are thus expressed more often in males.

[edit] Number of genes

Estimates of the number of genes humans have has been possible since DNA sequencing was first introduced. Estimates however have varied wildly, though the present best guess is 20,000-25,000, estimates of up to 40,000 have been in the past.

[edit] Mitochondrial DNA

In addition to nuclear DNA, humans have mitochondrial DNA

[edit] Genetic disorders

Humans have several genetic diseases, often caused by recessive genes.

[edit] Human traits with simple inheritance patterns

Dominant Recessive Reference
Curled Up Nose Roman Nose [citation needed]
Clockwise Hair Whorl Counter-clockwise Hair Whorl [citation needed]
Can Roll Tongue Can't Roll Tongue [1]
Widow's Peak No Widow's Peak [citation needed]
Facial Dimples No Facial Dimples [citation needed]
Able to taste PTC Unable to taste PTC [citation needed]
Unattached earlobe Attached earlobe [2]
Straight thumb Hitchhiker's thumb [3]
Tip of pinkie bends in Pinkie straight [citation needed]
Oval face Square face [citation needed]
Cleft chin no cleft chin [citation needed]
Broad eyebrow Slender eyebrow [citation needed]
Separated eyebrows Joined eyebrows [citation needed]
Long eyelashes Short eyelashes [citation needed]
Almond eyes Round eyes [citation needed]
Freckles No freckles [citation needed]
Wet-type earwax Dry-type earwax [citation needed]
Left thumb on top of interlocking fingers  Right thumb on top of interlocking fingers  [citation needed]

[edit] See also


Human mitochondrial DNA (mtDNA) haplogroups

  mt-most recent common ancestor    
L0   L1  
L2 L3  
  M   N
M1 CZ D E G Q A I W X   R   N1 N2 Y
C Z B JT F U
J T K pre-HV
HV
H V


Human Y-chromosome DNA (Y-DNA) haplogroups

Y-most recent common ancestor
|
A |
B |
C | F
D E G H | K
I J L M | P
N O Q R


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