ABC OF CLINICAL GENETICS - PART 2 ppt

... points. Figure 4.5 Simplified banding pattern of chromosome 12 3.3 3 .2 3.1 2. 3 1 1 2 p q 2. 2 2. 1 1 .2 1.1 1 2 3.1 3 .2 3.3 4 5 1.1 1 .2 1.3 2 3 4.1 4 .2 4.3 12 Figure 4.4 Meiosis Pairing and recombination MEIOSIS Division ... insurance providers and the degree of compliance by the insurance industry with the recommendations of the committee. 1 2 1 1 2 1 1 2 2...

Ngày tải lên: 10/08/2014, 14:22

... 1 /2 Figure 8.5 2/ 3 1 /22 Risk of being a carrier Risk of affected offspring 2/ 3 × 1 /22 × 1/4 = 1/1 32 Example 8 Figure 8.6 Example 9 1 /2 1 /2 Risk of being carrier Risk of affected child 1 /2 × 1 /2 ... in the birth prevalence of 28 24 20 16 12 8 4 6 10 25 17 8 9 10 4 1 2 3 1 1 3 6 22 4 3 4 3 5 1 2 4 22 1 6 5 3 0 8 4 40 60 80 100 120 140 160 180 20 0...

Ngày tải lên: 10/08/2014, 14:22

... 26 4 17 413 2 428 10 24 4 18 101 3 3 52 11 453 19 465 4 26 5 12 375 20 158 5 29 8 13 119 21 105 6 420 14 22 0 22 159 7 333 15 184 X 433 8 22 8 16 26 1 Y 30 Table 16.3 Progress in sequencing of human genome ... 23 42 166 3 0 25 11 phenotypes Total 11 597 685 37 60 12 379 Table 16 .2 Entries in the ‘OMIM’ database by chromosomal location Chromo- Loci Chromo- Loci Chromo- L...

Ngày tải lên: 10/08/2014, 14:22

... 19p13 .2 LDLR Creutzfeldt-Jakob disease 20 pter–p 12 PRNP Homocystinuria 21 q 22. 3 CBS Neurofibromatosis 2 (central) 22 q 12. 2 NF2 Figure 16 .2 Short arm of chromosome X showing position of the dystrophin ... BMD) RAB9 (RAS Oncogene family) Glycine receptor , alpha 2 Ferritin, heavy polypeptide-like Wiskott-Aldrich syndrome 22 .3 22 .2 22. 1 11.4 11.3 11 .2 11.1 21 Xp Fi...

Ngày tải lên: 10/08/2014, 14:22

... CYP3A4, CYP3A5, CYP2D6, CYP2C9, CYP2C19, CYP1A2, and CYP2E1, and each drug may be a substrate for one or more of these enzymes. "Phase II" metabolism involves conjugation of specific other ... the product of the normal expression of the MDR1 gene. P-glycoprotein is expressed on the apical aspect of the enterocyte and on the canalicular aspect of the hepatocyte (Fig....

Ngày tải lên: 06/07/2014, 08:20

... of a 21 ;21 Robertsonian translocation carrier 21 21 Normal spouse Parents Down syndrome in all offspring Carrier of balanced 21 ; 21 translocation Non-viable Gametes Offspring acg-05 11 /20 /01 ... 55ϩ Friedreich ataxia (FA) GAA 7 22 20 0–1700 Myotonic dystrophy CTG 33–35 50–4000ϩ Spinocerebellar ataxia 8 CTG 16–37 110–500ϩ acg-07 11 /20 /01 7 :22 PM Page 30 ABC of Clinical...

Ngày tải lên: 10/08/2014, 14:22

... adenomatous APC TS 5q21 polyposis HNPCC hMSH2 Mis 2p16 hMLH1 Mis 3p21. 3 -2 3 hPMS1 Mis 2q3 1-3 3 hPMS2 Mis 7p 22 MSH6 Mis 2p16 Familial breast–ovarian BRAC1 TS 17q21 cancer BRAC2 TS 13q1 2- 1 3 Li–Fraumeni ... ␤ Cardiac troponin T FHC2 1q 32 Cardiac myosin FHC3 11p11 .2 binding protein C ␣ Tropomyosin FHC4 15q 22 Regulatory myosin light chain MYL2 12q23–q24 Essential myosin light cha...

Ngày tải lên: 10/08/2014, 14:22

... chromosome 17q21 is 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 and 20 % of breast/ovarian cancer. In addition, BRCA2 is involved in a significant proportion of male breast cancer. Both BRCA1 and BRCA2 genes are large,...

Ngày tải lên: 10/08/2014, 14:22

... 100 types 2 genetic heterogeneity 27 –8 Genetic Interest Group 105 genetic services biochemical genetics 3–4 clinical genetics 2 3 cytogenetics 3 genetic registers 4 molecular genetics 3 organisation 2 4 referral ... 37 Index 120 acg-ind 11 /20 /01 8:07 PM Page 120 risk estimation 36–7 uniparental disomy 27 variability 27 database 82 molecular analysis 94–8 risk estimatio...

Ngày tải lên: 10/08/2014, 14:22

... consideration of familial hypercholesterolemia. Some adult-onset disease-causing mutations are more prevalent in certain ethnic groups. For instance, > ;2% of the Ashkenazi population carry one of three ... first-degree relatives with breast cancer is at greater risk for a Mendelian disorder if she has a total of three female first-degree relatives than if she has a total of t...

Ngày tải lên: 07/07/2014, 01:20