Linkage mapping of chromosome 21

 Physical mapping of chromosome 21

 Cloning and characterization of human chromosome 21 genes :

Exon Trapping ATP5O SIM2 NCAM2 PKNOX1 HES1 PWP2 ISTN	TIAM PEP19 WHT1 LS HRMT1L1 RED1 EZH2 TMPRSS2	C21ORF1 C21ORF2 TPTE BACH1 AIRE PDE9A G3PP CLIC3
Other genes (GABPA, TIAM1, CAF1P60, HLCS, U2AF35, PCNT, MNB, KIAA136, KIAA179, TCP10)

 Progressive myoclonus epilepsy type 1

 Autoimmune Polyglandular Disease type 1

 Recessive hereditary deafness DFNB8

 Recessive hereditary deafness DFNB10

 Holoprocencephaly 1

 Knobloch syndrome

 Parental and meiotic origin of non-disjunction

 Partial trisomy 21

 Differential gene expression in trisomy 21

 Transgenic mice for Sim2

 Differential gene expression in trisomy Ts65Dn mouse model of Down syndrome

 Monogenic Disorders

• Polydactylies
• Peutz-Jeghers syndrome
• Kartagener syndrome(Primary Ciliary Dyskinesia)
• Combined factor 5 factor 8 deficiency

 Polygenic/Complex traits

• Schizophrenia

 Peutz-Jeghers syndrome

 Kartagener syndrome(Primary Ciliary Dyskinesia)

 Afibrinogenemia

 Combined factor 5 factor 8 deficiency

 Molecular pathophysiology

 Mouse model

 Gene therapy