9单基因遗传病.pdf

Chapter 9 Single-gene disorders Monogenic disorders 单基因遗传病 OMIM Statistics for Nov. 16, 2009 Type Auto- X- Y- Mitochon- Total somal linked linked drial Gene with known sequence 12272 605 48 35 12960 Gene with known sequence 328 20 0 2 350 and phenotype Phenotype description, 2408 216 4 26 2654 molecular basis known Mendelian phenotype or locus, 1647 141 5 0 1793 molecular basis unknown Other, mainly phenotypes 1871 137 2 0 2010 with suspected mendelian basis Total 18526 1119 59 63 19767 HGMD Statistics-1 A. Micro-lesions Mutation type No. of entries Missense/nonsense 52591 Splicing 9015 Regulatory 1610 Small deletions 14701 Small insertion 6094 Small Indels 1371 HGMD Statistics-2 B. Gross lesions Mutation type No. of entries Repeat variations 281 Gross insertions 1154 Complex rearrangements 870 Gross deletions 5705 As of 11/16/2009, HGMD (human gene mutation database) contains 93347 mutations in 3526 genes