染色体解释异常三单体性嵌合着丝粒融合多倍体原因非整倍体chromosomal.pdfVIP

Chromosomal

Explain

chromosomaldisorders;

trisomy;monosomy;

mosaic;

centricfusion

Causesofpolyploidy;causesofaneuploidy.

•Whatisthebasisofstructuralaberration?

•Popularstructuralaberration?

•Majorkaryotypeofthesedisorders:

Downsyndrome;Patausyndrome;

Edwardssyndrome;CatCrysyndrome;

Turnersyndrome;

Klinefeltersyndrome;

XYYsyndrome;

XXXsyndrome.

•Thekaryotypeofafemaleis45,XX,-21,-21,+t(21,21)(p11,q11).Isherphenotypenormalorabnormal?Ifsheand

anormalmalemarry,cantheyprocreateanormalbaby?Why?

Cancer

proto-oncogenes,oncogenes,tumorsuppressorgenes,

•Whatisproto-oncogenes?

Thetypesofproto-oncogenes?

Howareproto-oncogenesActivated?

•Describethedifferencesbetweenoncogenesandtumorsuppressorgenes.

•Describethemultistageprocessofcarcinogenesis.

Diagnosis

Explainterms:

pedigreeanalysis;

karyotypeanalysis;

FISH;molecularhybridization;

probes;

polymerasechainreaction;

sequencing;

genechip;

Presymptomaticdiagnosis;

Newbornscreening;

Carriertesting;

prenataldiagnosis;

Amniocentesis

Answerquestions:

•Whatisgenediagnosis?Describethemajormethodsofmoleculartests?

•Describetheprinciplesofthepolymerasechainreactionanddiscussitsusesingenediagnosis.

•DescribeprinciplesofMolecularhybridization.

•Whatissymptomaticdiagnosis?Outlinethechiefmethodsinvolved.

•Whatisprenataldiagnosis?Outlinethemethodsinvolved.

Treatment

Explainterms:

Enzymereplacementtherapy,

genetherapy，