ABC OF CLINICAL GENETICS - PART 10 docx

... 80 recombinant 101 internet and genetic services 104 –5 British Society for Human Genetics (BSHG) 104 gene-specific information 104 inherited disease databases 104 laboratory services 104 –5 mapping ... on preimplantation genetic diagnosis. Department of Health, 1999. Human Genetics Commission. Whose hands on your genes? Department of Health, 2000. Human Genetics Commissio...

Ngày tải lên: 10/08/2014, 14:22

... expression in each individual founder Gain -of- function models due to overexpression using tissue- specific promoters Loss -of- function models using anti- sense and dominant negative transgenes ... integration of transgene Transgenic Pronuclear injection of transgene Variable copy numbers of transgene Chapter 062. Principles of Human Genetics (Part 10) Tran...

Ngày tải lên: 07/07/2014, 01:20

... 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) ... person being tested. Non-directiveness Non-directiveness is taken to be a cornerstone of contemporary genetic counselling practice, and is...

Ngày tải lên: 10/08/2014, 14:22

... detected by ultrasonography (courtesy of Dr Sylvia Rimmer, Department of Radiology, St. Mary’s Hospital, Manchester) acg-05 11/20/01 7:17 PM Page 23 ABC of Clinical Genetics 26 otosclerosis and hereditary ... 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 male: 11: X Ј Figure 6 .10 Segrega...

Ngày tải lên: 10/08/2014, 14:22

... (SCID) acg-09 11/20/01 7:24 PM Page 40 ABC of Clinical Genetics 42 taken into account in sporadic cases. In the case of gonadal mosaicism the results of carrier tests will be normal in the mother of ... cells, ABC of Clinical Genetics 32 15 15 15 15 Paternal Maternal De novo deletion Gamete Offspring Parent Prader–Willi syndrome Figure 7.6 Prader–Willi syndrome in offspr...

Ngày tải lên: 10/08/2014, 14:22

... syndrome AD Figure 10. 14 Pedigree demonstrating X linked recessive inheritance of Haemophilia A acg -1 0 11/20/01 7:27 PM Page 52 ABC of Clinical Genetics 54 Box 10. 9 Examples of autosomal dominant ... haematuria Renal failure acg -1 0 11/20/01 7:27 PM Page 53 ABC of Clinical Genetics 52 Hypertrophic cardiomyopathy (HOCM) has an incidence of about 1 in 100 0. Pres...

Ngày tải lên: 10/08/2014, 14:22

... than 10% , with a critical period during the third and fourth months of pregnancy. Affected infants seem to have a high perinatal mortality rate. ABC of Clinical Genetics 72 Box 13.1 Examples of ... underlying de Lange syndrome, ABC of Clinical Genetics 70 Figure 13.9 External ear malformation with preauricular skin tags in Goldenhar syndrome Figure 13 .10 The diagnosis...

Ngày tải lên: 10/08/2014, 14:22

... 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 103...

Ngày tải lên: 10/08/2014, 14:22

... (Clinical Genetics Society, Association of Clinical Cytogeneticists, Clinical Molecular Genetics Society and Association of Genetic Nurses and Counsellors). There are also links to a number of ... Counsellors http://www.agnc.co.uk Association of Clinical Cytogeneticists http://www.cytogenetics.org.uk Clinical Molecular Genetics Society http://www.cmgs.org.uk Society for...

Ngày tải lên: 10/08/2014, 14:22

... mutations in the collagen genes COL5A1, COL5A2 and COL1A1 acg-13 11/20/01 7:34 PM Page 70 ABC of Clinical Genetics 54 Box 10. 9 Examples of autosomal dominant eye disorders • Late onset macular dystrophies • Best ... 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...

Ngày tải lên: 08/04/2014, 13:04