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> Genetic Disorders Issue: 2007-2 Section: Biology

Turkish

 

WELL, WHICH ILLNESSES DO WE SAY HEREDITARY?

According to an expert in biology history and philosophy, David Magnus from Pennsylvania University, after World War II genetic illness definition was limited with Huntington which is 100% hereditary and Mediterranean anaemia. In 1989 Francis Collins and Lap Chee Tsui defined CFTR Regulator protein’s genetic code which is on cromozome 7. This protein causes Huntington disease. In recent years, the definition of hereditary illnesses’ contents have been widened.

 

Some specilities whose hereditary is less than 100%, include more than one genes and they are accepted hereditary. (according to Magnus they are second group hereditary illnesses.) Namely, if any illness has a genetic specility, it is called as hereditary illness. (even, it’s not 100% hereditary) For instance, heart disease, some cancer kinds and diabetes.

 

Consequently, widening the contents of hereditary illness concept resulted to include some complex behaviour specilities. Alcoholism, schizophrenia and even tendency for guilty are accepted as hereditary illness. Magnus defines them as the third group hereditary illnesses. The alterations of genetic structure result physical abnormalisms. Here are some hereditary abnormalism.

 

CLINEFELTER SYNDROME

This syndrome was defined by Dr Harry Clinefelter first in 1942. This syndrome appears among males the most.

 

Clinefelter syndrome (or 47 or XXY cyndome) is the situation of abnormalism of generical cells chromosome (male cells).

When a cell is divided into two parts, which is one of the generical chromosomes, doesn’t seperate itself from the others. An ovum which has two X chromosomes, is fertilizied with a sperm. This action causes that syndrome.

 

A normal human must have 46, XY chromosomes, but an abnormal human who has Clinefelter syndrome has 47, XXY.

Among every living males, this syndrome is seen 1 to 500 or 1000 percent people. These people are disabled mentally.

 

TURNER SYNDROME

A person who has Turner cyndrome hasn’t got an X chromosome. This syndrome is seen among 1 to 3000 percent living females.

 

They are short. Mental abnormalisms are seen very little. But they can sometimes be disabled mentally. So they can’t pass performance tests. Hoewever, they can pass oral IQ tests.

 

DOWN SYNDROME (MONGOLISM)

More than 595 children who has Down Syndrome has an extra 21 chromosome. These children typically were born from old age mothers. But sparadic or trizomic mongolism can be seen among young mothers.

 

Down Syndrome can be seen among every 1 to 700 percent living children, but this indicence can change according to mothers’ age. 1 to 3 percent of an extra 21 chromosome comes from father.

 

The baby is very calm, cries seldom. Improvements of both physical or mental is late. Their average IQ rate is 50.

 

According to Allen any specility we say genetic basis can be explained with environmental effects. We can make appropriate definition about them to legal, surgical or physical actions. But different definitions don’t show that their reasons are the same.

 

Bibliography

  • Bilim ve Teknik Dergisi Sayı:391 Haziran 2000
  • Ana Britannica Cilt:10 Sayfa:339
  • Tssus@turner-syndrome_us.org
  • Fizyofarmakoloji Bülteni Cilt:16 Sayı:3 2006
  • www.psikofarmakoloji.org
  • http://medgen.genetics.utah.edu/photographs/ diseases/high/16-2.jpg

 

Iconography

  • http://images.google.com.tr/images?q=mendel+kanunu&svnum=10&um=1&hl=tr
  • http://medgen.genetics.utah.edu/photographs/diseases/high/16-2.jpg
  • www.eatonhand.com/jpg/1115400.jpg
  • http://medgen.genetics.utah.edu/
  • www.resimcim.net/garip-olaylar/14535-genetik-bozukluklar-6/
  • www.resimcim.net/garip-olaylar/14534-genetik-bozukluklar-5/
  • www.psikoterapi-merkezi.com/images/down.jpg
  • www.interesan.com/resim/47968/İki_Başlı_Minik_Kedi
  • www.interesan.com/resim/10951/Yapışık_İkizler

 

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