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Antenatal and postnatal screeningSex-linked recessive inheritance

Antenatal and postnatal screening are used to protect the health of mothers and babies. Antenatal techniques include ultrasound imaging, dating scans, blood and urine tests and diagnostic testing, such as amniocentesis, CVS and genetic screening. Postnatal screening can involve diagnostic testing such as PKU.

Part of Human BiologyPhysiology and Health

Single gene disorders - Sex-linked recessive inheritance

The sex , although mainly responsible for determining , carry some that code for a number of body functions.

These genes are described as sex-linked.

The other 22 pairs of have the same genes in the same position on both chromosomes.

The difference in size between the X chromosome and the shorter Y chromosome means some genes appear only on the X chromosome.

The effect of sex-linked genes is more obvious in males because the X chromosome can contain genes the Y does not.

A allele on the X chromosome will show in the as there is no dominant allele present to override it.

A female will have another allele on her other X chromosome which, if dominant, would mask the effect of a recessive allele.

Haemophilia

  • Sufferers are unable to their blood resulting in excessive bleeding, even from small cuts or bruises.
  • It is a sex-linked, inherited condition caused by a allele on the X chromosome.
  • Sufferers are almost exclusively males because they only need one recessive allele.
  • However, if his X chromosome carries the dominant normal allele, he will be normal.
  • Females with two normal alleles will also be normal.
  • Only in the rare case of a female having two recessive alleles will they show the condition.
  • Those women with one normal and one recessive allele are called . Although they themselves are normal, they can pass the recessive allele to half of their children.