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

... th Marfan syndrome Achondroplasia Figure 2.3 Physical measurements are an important part of clinical examination acg-02 11/20/01 7:13 PM Page 5 ABC of Clinical Genetics 16 Molecular cytogenetics Fluorescence in situ hybridisation (FISH) ... centiles WEIGHT kg years 40 35 30 25 20 15 10 120 125 130 135 140 145 150 155 160 165 170 175 180 185 190 195 5 6 7 8 9 10 11 12 13 14...

Ngày tải lên: 10/08/2014, 14:22

... calculation of recurrence risk after an isolated case of severe congenital deafness is shown in example 20. ABC of Clinical Genetics 38 1/3 1/12 2/3 1/6 1/3 Example 17 Figure 8. 14 Example 18 Figure 8. 15 Risk ... 7 1/2 1/4 1 /8 1/31 1 1 Affected 2/3 1/2 1/2 1/2 Figure 8. 5 2/3 1/22 Risk of being a carrier Risk of affected offspring 2/3 × 1/22× 1/4 = 1/132 Example 8 F...

Ngày tải lên: 10/08/2014, 14:22

... 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

... 50–4000ϩ Spinocerebellar ataxia 8 CTG 16–37 110–500ϩ acg-07 11/20/01 7:22 PM Page 30 ABC of Clinical Genetics 28 X X Y XX XX Ј XX Ј XYXY X Ј Y Parents Gametes Offspring Carrier female Normal ... be the only sign of tuberous sclerosis in the parent of a severely affected child acg-06 11/20/01 7:20 PM Page 25 ABC of Clinical Genetics 20 Other autosomal trisomies Trisomy...

Ngày tải lên: 10/08/2014, 14:22

... 10.5 Frequency of cystic fibrosis mutations screened in the North-West of England Mutation Frequency (%) G85E 0.3 R117H 0.7 621 ϩ 1G→T 1.0 1078delT 0.1 ⌬I507 0.5 ⌬F5 08 88. 0 171 7-1 G→T 0.3 G542X ... main diagnostic features of NF1 are café-au-lait patches, peripheral neurofibromas and lisch nodules. Café-au-lait patches are sometimes present at birth, but often appear in the first...

Ngày tải lên: 10/08/2014, 14:22

... 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

... 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

... remember that a thank you note on e-mail has less im- pact than an actual handwritten note (though e-mail is bet- ter than nothing). Prepare your questions ahead of time and write them down. That ... elaborate ques- tions, the sort of scenario-setting stuff that looks well in- formed on paper. Don’t do it. The questions you see in printed interviews were usually written for structural rea...

Ngày tải lên: 26/01/2014, 08:20

... 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