Rovasti Toivo Rapeli 29/9 1974

Kirje 29.9.1974

Riksdagsman Veikko Svinhufvud 29.4.1963

Kirje

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

PURPOSE: To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss family, which defect was unlinked to the chromosome 2q33-35 CCL locus. METHODS: A large family was characterized for linkage analysis by slit lamp examination or by the review of drawings made before cataract extraction. The affection status was attributed before genotyping, and the genotyping was masked to the affection status. Two-point and multipoint linkage analyses were performed using the MLINK and the LINKMAP components of the LINKAGE program package (ver. 5.1), respectively. Mutational analysis of candidate genes was performed by a combination of direct cycle sequencing and an amplification refractory mutation system assay. RESULTS: Ten individuals were affected with the CCL phenotype. The disease was autosomal dominant and appeared to be fully penetrant. A new CCL locus was identified on chromosome 22q11.2 within a 11.67-cM interval (maximum lod score [Zmax] = 4.14; theta = 0). Mutational analysis of the CRYBB2 candidate gene identified a disease-causing mutation in exon 6. This sequence change was identical with that previously described to be associated with the cerulean cataract, a clinically distinct entity. CONCLUSIONS: The CCL phenotype is genetically heterogeneous with a second gene on chromosome 22q11.2, CRYBB2. The CCL and the cerulean cataract are two distinct clinical entities associated with the same genetic defect. This work provides evidence for a modifier factor that influences cataract formation and that remains to be identified.

Agreed upon procedures report on the City of Danbury, Iowa for the period July 1, 2006 through February 29, 2008

Agreed upon procedures report on the City of Danbury, Iowa for the period July 1, 2006 through February 29, 2008

Filosofian maisteri Nils Berndtson 29/7 1963

Kirje 29.7.1963

Motor Vehicle Crash Fatalities for Week Ending, August 29, 2008

Motor Vehicle Crash Fatalities

EPI Update, August 29, 2008

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

Review of the Sigourney Community School District for the period July 1, 2006 through February 29, 2008

Review of the Sigourney Community School District for the period July 1, 2006 through February 29, 2008

Power Fund Rollout Address, March 29, 2007

Speech by Governor Culver.

Kajaanissa 29/12 -25

Kirje 29.12.1925

Helsinki 19/6 -29

Kirje 19.6.1929

Nationella samlingspartiets 29.11.1975 Herr Ordförande

Kirje