ABC OF CLINICAL GENETICS - PART 5 pdf

... 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 ⌬F508 88.0 171 7-1 G→T 0.3 G542X ... haematuria Renal failure acg-10 11/20/01 7:27 PM Page 53 ABC of Clinical Genetics 52 Hypertrophic cardiomyopathy (HOCM) has an incidence of about 1 in 1000. Presentation is...

Ngày tải lên: 10/08/2014, 14:22

... ne- cessary for an accurate classification 189 5 · Bone Marrow IV Fig. 66 i Partial karyotype of a dicentric chromosome 5; 17 that leads to a simultaneous loss of the long arm of chromosome 5 ... the short arm of chromosome 17. The loss of the short arm of chromosome 17 (17p-) causes the loss of an allele of p53, which is localized there in the band 17p13. Structural cha...

Ngày tải lên: 10/08/2014, 08:20

... centiles WEIGHT kg years 40 35 30 25 20 15 10 120 1 25 130 1 35 140 1 45 150 155 160 1 65 170 1 75 180 1 85 190 1 95 5 6 7 8 9 10 11 12 13 14 15 16 17 5 6 7 8 9 10 11 12 13 14 15 16 17 200 155 160 1 65 170 1 75 180 1 85 190 1 95 200 ... 155 160 1 65 170 1 75 180 1 85 190 1 95 200 1 15 110 1 05 100 95 90 1 05 100 95 90 85 80 75 70 65 60 55 50...

Ngày tải lên: 10/08/2014, 14:22

... (site A) CGG 6 50 55 –1000ϩ Fragile XE (site E) CCG 6 52 55 ϩ Friedreich ataxia (FA) GAA 7–22 200–1700 Myotonic dystrophy CTG 33– 35 50–4000ϩ Spinocerebellar ataxia 8 CTG 16–37 110 50 0ϩ acg-07 11/20/01 ... 256 Age 36 1 in 3 05 1 in 200 Age 37 1 in 240 1 in 156 Age 38 1 in 190 1 in 123 Age 39 1 in 1 45 1 in 96 Age 40 1 in 110 1 in 75 Age 44 1 in 37 1 in 29 Figure 5. 6 Possibilities f...

Ngày tải lên: 10/08/2014, 14:22

... 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 offspring as a consequence of a de ... (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 test...

Ngày tải lên: 10/08/2014, 14:22

... 428 10 244 18 101 3 352 11 453 19 4 65 4 2 65 12 3 75 20 158 5 298 13 119 21 1 05 6 420 14 220 22 159 7 333 15 184 X 433 8 228 16 261 Y 30 Table 16.3 Progress in sequencing of human genome July 2001 Total ... T CG GC CG AT CG GC GC AT CG GC GC GC AT TA CG 5 5 5 5 3Ј 3Ј 3Ј 3Ј AT AT Figure 15. 2 Double stranded DNA helix and semiconservative DNA replication acg- 15 11/21/01 9:33...

Ngày tải lên: 10/08/2014, 14:22

... gene. ABC of Clinical Genetics 84 Table 16 .5 Notation of mutations and their effects Notation of nucleotide changes 1 657 G→T G to T substitution at nucleotide 1 657 1031–1032ins T Insertion of T between ... 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....

Ngày tải lên: 10/08/2014, 14:22

... involved in 45 50 % 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 ... analysis of the dsytrophin gene by multiplex PCR. This analysis simultaneously amplifies exons 43, 45, 47, 48, 50 , 51 , 52 , 53 , & 60 with deletions causing loss of...

Ngày tải lên: 10/08/2014, 14:22

... genetics 56 –62 childhood tumours 61–2 chromosomal abnormalities 57 –8 common cancers 56 , 58 –9 familial common cancers 56 inherited cancer syndromes 59 –61 tumorigenesis 56 –7 cardiac disorders 51 –2 cardiomyopathy ... 91 proto-oncogenes 56 –7 psychoses 66–7 psychosocial issues, genetic counselling 8–10 pulse-field electrophoresis (PFGE) 93 Index 118 acg-ind 11/20/01 8:07 PM Pag...

Ngày tải lên: 10/08/2014, 14:22

... (site A) CGG 6 50 55 –1000ϩ Fragile XE (site E) CCG 6 52 55 ϩ Friedreich ataxia (FA) GAA 7–22 200–1700 Myotonic dystrophy CTG 33– 35 50–4000ϩ Spinocerebellar ataxia 8 CTG 16–37 110 50 0ϩ acg-07 11/20/01 ... are due to 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...

Ngày tải lên: 08/04/2014, 13:04