ABC OF CLINICAL GENETICS - PART 8 ppt
ABC OF CLINICAL GENETICS - PART 8 ppt
... first-trimester prenatal diagnosis. The thalassaemias are due to a reduced rate of synthesis of - or -globin chains, leading to an imbalance in their production. ␣-thalassaemia is a defect of ␣-globin ... gene. ABC of Clinical Genetics 84 Table 16.5 Notation of mutations and their effects Notation of nucleotide changes 1657 G→T G to T substitution at nucleotide 1657 10...
Ngày tải lên: 10/08/2014, 14:22
ABC OF CLINICAL GENETICS - PART 7 pptx
... 1972–19 98. (Data from National Centre for Biotechnology Information, National Institute of Health, USA) 0 5000 10000 15000 20000 25000 30000 35000 1972 1974 1976 19 78 1 980 1 982 1 984 1 988 1990 1992 1994 1996 19 98 1 986 acg-16 ... 12 375 20 1 58 5 2 98 13 119 21 105 6 420 14 220 22 159 7 333 15 184 X 433 8 2 28 16 261 Y 30 Table 16.3 Progress in sequencing of human genome...
Ngày tải lên: 10/08/2014, 14:22
ABC OF CLINICAL GENETICS - PART 9 pps
... of inherited breast-only cancer and 75 80 % of inherited breast/ovarian cancer. The BRCA2 gene on chromosome 13q1 2-1 3 is involved in approximately 35% of inherited breast-only cancer and 20% of ... population groups. ABC of Clinical Genetics 98 Figure 18. 12 Flourescence in situ hybridisation in a female carrier of a Duchenne muscular dystrophy mutation involving deleti...
Ngày tải lên: 10/08/2014, 14:22
ABC OF CLINICAL GENETICS - PART 10 docx
... 91 proto-oncogenes 56–7 psychoses 66–7 psychosocial issues, genetic counselling 8 10 pulse-field electrophoresis (PFGE) 93 Index 1 18 acg-ind 11/20/01 8: 07 PM Page 1 18 ABC of Clinical Genetics 110 Mis-sense ... localisation 83 gene tracking 83 –4 human genome project 82 –3 identification 84 loss of function mutations 86 mendelian inheritance database 82 modifier gene...
Ngày tải lên: 10/08/2014, 14:22
abc of clinical genetics - helen m. kingston
... prior risk of Estimation of risk in mendelian disorders 37 1/2 Example 10 1/2 1/2 1/4 1 × 1/4 × 1/2 = 1 /8 Risk of affected child Figure 8. 8 Example 11 Example 12 All offspring affected All offspring ... syndrome 9–35 38 62 (SBMA) Spinocerebellar ataxias SCA 1 6– 38 39 83 SCA 2 14–31 32–77 (Machado–Joseph SCA 3 12–39 62 86 disease) SCA 6 4–17 21–30 SCA 7 7–35 37–200 Dentatorubro-...
Ngày tải lên: 08/04/2014, 13:04