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human genetics

human genetics

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.

Contents

  • 1 Chromosomes
  • 2 Number of genes
  • 3 Mitochondrial DNA
  • 4 Genetic disorders
  • 5 See also
  • 6 External links

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.

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.

Mitochondrial DNA

In addition to nuclear DNA, humans have mitochondrial DNA

Genetic disorders

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

See also

  • Genetic genealogy
  • Genealogical DNA test

Human Y-chromosome DNA (Y-DNA) haplogroups

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

Human mitochondrial DNA (mtDNA) haplogroups

  most distant common ancestor    
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

External links

  • Human Genome Project
  • How many Genes do humans have?
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human genetics news and human genetics articles

Here's our top rated human genetics links for the day:

U of MN researchers link early brain development to adult-onset neurodegenerative disease 

EurekAlert! - Nov 16 9:40 AM
Researchers at the University of Minnesota's Institute for Human Genetics have shown for the first time that the severity of an adult neurodegenerative disease is tied to how well the brain developed shortly after birth.

Ancient Gene Yield: New methods retrieve Neandertals' DNA 
Science News - 1 hour, 41 minutes ago
Welcome to the era of Neandertal genetics. Researchers announced this week that they have retrieved and analyzed a huge chunk of Neandertal DNA, covering more than 1 million of the roughly 3 million paired chemical constituents of an individual's genetic makeup.

Duke Researchers Highlight Gender Differences In Heart Failure 
Science Daily - Nov 17 10:10 AM
Women tend to live longer with heart failure than do men, and they also tend to have a less severe form of the disease, which is characterized by reduced performance of the heart muscle, according to a study by Duke University Medical Center cardiologists.

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