Nur Rohmah 12/338710/PMU/7375

1. GENOTYPE–PHENOTYPE CORRELATIONS IN NONLETHAL OSTEOGENESIS IMPERFECTACAUSEDBY MUTATIONSIN THEHELICAL DOMAIN OFCOLLAGEN TYPE IFrank Rauch, Liljana Lalic, Peter Roughley and Francis H Glorieux Nur Rohmah 12/338710/PMU/7375

2. Introduction

3. Introduction

4. Introduction Hearing loss Osteogenesis Imperfecta (OI) Blue/grey sclera bone fragility Dentinogenesis imperfecta

5. Introduction Type I < IV < III < II

6. Objective to investigated genotype–phenotype correlations in OI patients withglycine mutations in the triple helical domain of collagen type I.

7. Subject and method

8. Subject and method

9. Subject and method Alignment Sequence traces were aligned with the GenBank reference sequencesCOL1A1 genomic DNA (AF017178) COL1A2 genomic DNA (AF004877.1), then compared and analyzed using BLAST. Statistical analysis

10. RESULTS AND DISCUSSION

11. RESULTS AND DISCUSSION

12. RESULTS AND DISCUSSION

13. RESULTS AND DISCUSSION Figure 1 Relationship between the triple helical position of glycine mutations in collagen type I a chains and the presence (+) or absence () of deformitiesor fractures at birth (DFB), blue sclera (BS), and dentinogenesisimperfecta (DI).

14. RESULTS AND DISCUSSION Figure 2.Relationship between the positions of glycine substitutions in the triple helicaldomain of type I collagen and height z-scores

15. Conclusion • genotype–phenotype correlations for 161 OI patients with 111 distinct triple helical mutations of collagen type I • Height correlated with the location of the mutation in the α2 chain but not in the α1. • Patients with mutations affecting the first 120 amino acids at the amino-terminal end of thecollagen type I triple helix had blue sclera but did not have dentinogenesisimperfecta.

17. Rumus Z-score : Manual RumusZ-score : Z= X-M SD Dimana: Z = Nilai standar X = Rata-rata distribusi M = Nilai mentah yang akan dicari nilai standarnya SD = Standar deviasi distribusi