Digital Commons Network^™

Jefferson Alumni Bulletin – Volume Xlvi, Number 1, December 1996

The Bulletin (formerly the Jefferson Medical College Alumni Bulletin)

Jefferson Alumni Bulletin – Volume XLVI, Number 1, December 1996

Rational Drug Design, Page 4

Technology Transfer, Page 7

Clinical Trials, Page 9

World-Class Athletes and Drugs, Page 12

The Makings of the Complete Physician, Page 14

Major Alliance Links Jefferson with Mercy Health, Page 17

“Gene Repair” Corrects Mutation Leading to Disease, Page 19

Genetic Discoveries Lead to New Lung Cancer Tests, Page 20

Alumni Can Participate in JeffHOPE, Page 24

Student AMA Organizes Bone Marrow Drive, Page 25

Glanzmann Thrombasthenia. Cooperation Between Sequence Variants In Cis During Splice Site Selection., Ying Jin, Harry C. Dietz, Robert A. Montgomery, William R. Bell, Iain Mcintosh, Barry Coller, Paul F. Bray

Cardeza Foundation for Hematologic Research

Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the cis-acting sequences known to regulate splice site selection. In vitro analysis of transcripts generated from mini-gene constructs demonstrated that exon skipping occurred only when the G-->A mutation was cis to a polymorphism 116 bp upstream, providing precedence that two sequence variations …