SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

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RESULTSThree novel deletion mutations were identified in 2 genes frequently associatedwith HCM in the probands and their families, one in MYH7 and 2 in MYBPC3.Pedigree of all families in 3 generations were plotted. In one family, 2 mutations in the 2different genes were segregating (MM). Four families were, that of MM, HH, MiR andNP.29
Ul:1 01:2 111:3 U1:4111:1 01:2 Hl:3 111:4 Ul:5 111:6111:1Pedigree of all families: Squares and circles indicate male and female members, respectively.Open, closed and slashed symbols indicate unaffected, carrier affected, and deceasedmembers, respectively. Hatched symbols indicate asymptomatic carriers of the mutation. Thearrows point to the proband.Mathimohan (MM) family has two mutations: M: 25 nt deletion in intron 31 in MYBPC3 gene anB refers 3 nt deletion in codon 927 exon 23, MYH7 gene.Micheal Ruban (MiR) family has only one mutation 25 nt deletion in intron 31 in MYBPC3 geneHariharan Family (HH) and Narayanan Pillai family have the same mutation that is, 2 nt deletioin exon 16, codon 453, MYBPC3 gene.30
Page 1 and 2: SREE CHITHRA TIRUNAL INSTITUTE FORM
Page 3 and 4: PROJECTSUTILITY OF WEEKLY ORAL AZYT
Page 5 and 6: INTRODUCTIONSecondary prophylaxis w
Page 7 and 8: Secondary prevention has evolved fr
Page 9 and 10: for those who arc not tolerating Pe
Page 11 and 12: AIMTo study the utility of once wee
Page 13 and 14: RESULTIt was an open lubel study.Tr
Page 15 and 16: DATA ON FIRST ATTACK OFRHEUMATIC FE
Page 17 and 18: They were followed up for 4 weeks a
Page 19 and 20: when the study drug was continued,
Page 21 and 22: lntrucellular localizution of antib
Page 23 and 24: REFERENCESI. Gene H Stollcnnan: Cha
Page 25 and 26: 28. Bruna Facinclli cl al The Lance
Page 27 and 28: INTRODUCTIONFamilial hypertrophic c
Page 29: ( FAM) analysis. The SSCP analysis
Page 33 and 34: 11:2 is a 40 year old lady, symptom
Page 35 and 36: Ill: I is the 19 year old daughter
Page 37 and 38: Nl, FAMILYProband (11:8) is a 54 ye
Page 39 and 40: DISCUSSION7/22 patients (77.3%) had
Page 41 and 42: esult from complex inheritance patt
Page 43 and 44: ReferencesI. WATKINS H, SEIDMAN JG,
Page 45: 13-myosin heavy chain gene have a s

SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

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