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Clinical Features of Marfan Syndrome

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Porth, C.M. 2011. Essentials of Pathophysiology, 3rd Edn.
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Porth, C.M. 2011. Essentials of Pathophysiology, 3rd Edn.
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• A single mutant allele from an affected
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parent is transmitted to an offspring
regardless of sex.
The affected parent has a 50 percent chance
of transmitting the disorder to each
offspring.
In many conditions the age of onset is
delayed e.g. Huntington’s disease.
Disorder may not necessarily affect the
parent.
Reduced reproductive capacity.
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•
Manifested only when both members of the
gene pair are affected.
• Both parents may be carriers.
• Affect both sexes.
• When both parents are carriers of a mutant
gene, there is a 25 percent of having an affected
child, a 50 percent chance of a carrier child,
and a 25 percent chance of an unaffected or
non-carrier child.
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Almost always associated with the X, or female
chromosome.
Inheritance pattern is recessive.
Because of the presence of a normal paired X gene, female
heterozygotes rarely experience the effects of the defective
gene, whereas all males who receive the gene are typically
affected.
The common pattern of inheritance is one in which an
unaffected mother carriers one normal and one mutant
allele on a chromosome.
50 percent: defective gene (males); 50 percent carriers
(daughters).
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• Form a major category of genetic disease,
accounting for a large proportion of early
gestational abortions, genital
malformations and intellectual
disability.
• The aberrations underlying
chromosomal disorders may take the
form of alterations in the structure of one
or more chromosomes or an abnormal
number of chromosomes.
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Porth, C.M. 2011. Essentials of Pathophysiology, 3rd Edn.
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1.
2.
3.
4.
5.
______________ defects, are also known as birth defects,
abnormalities of structure, function or metabolism that are
present at the time of birth.
Genetic disorders are caused either by an alteration in
______________ that disrupts the single gene sequence or
_______________ rearrangements.
Someone who carries a gene responsible for a disease but does
not manifest the disease is said to be a _________________.
_________________ syndrome is an autosomal dominant
disorder of connective tissue.
X-linked inheritance patterns are predominately
______________.
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