ABC OF CLINICAL GENETICS - PART 9 pps
ABC OF CLINICAL GENETICS - PART 9 pps
... develop life-threatening hyperpyrexial
99
19 Treatment of genetic disorders
Gene
Gene product
Metabolic
effect
Functional
effect
Structural
effect
Figure 19. 1 Mechanisms of gene action
Figure 19. 2 Letter ... families.
Detection of the duplication or deletion of the PMP22 gene
is achieved using fluorescent dosage PCR analysis to determine
ABC of Clinical Genetics
96
Fig...
Chapter 005. Principles of Clinical Pharmacology (Part 9) pps
... target of QT-
Chapter 005. Principles of Clinical
Pharmacology
(Part 9)
Transferase Variants
One of the most extensively studied phase II polymorphisms is the PM trait
for thiopurine S-methyltransferase ... Deficiency of glucose- 6-
phosphate dehydrogenase (G6PD), most often in individuals of African or
Mediterranean descent, increases risk of hemolytic anemia in r...
ABC OF CLINICAL GENETICS - PART 2 ppt
...
115
110
105
100
95
90
105
100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
HEIGHT
cm
5-1 8 yrs
With provision for school reception
class
NAME
99 .6 th
98 th
91 st
75 th
50 th
25 th
9th
2nd
0.4 th
99 .6 th
98 th
91 st
75 th
50 th
25 th
9th
2nd
0.4 th
Marfan
syndrome
Achondroplasia
Figure ... centiles
WEIGHT
kg
years
40
35
30
25
20
15
10
120
125
130
135
140
145
150
155...
ABC OF CLINICAL GENETICS - PART 3 doc
... 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 ... for offspring 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...
ABC OF CLINICAL GENETICS - PART 4 ppt
... (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 offs...
ABC OF CLINICAL GENETICS - PART 5 pdf
... 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 few
years of life, increasing ... development of plexiform neurofibromas or
scoliosis.
The gene for NF1 was localised to chromosome 17 in 198 7
and cloned in 199 0. The gene contains 59 exons and encodes...
ABC OF CLINICAL GENETICS - PART 7 pptx
... USA)
0
5000
10000
15000
20000
25000
30000
35000
197 2
197 4
197 6
197 8
198 0
198 2
198 4
198 8
199 0
199 2
199 4
199 6
199 8
198 6
acg-16 11/20/01 7:54 PM Page 82
for example, is not yet known, but recurrence ... Number of genes mapped from 197 2– 199 8. (Data from
National Centre for Biotechnology Information, National Institute of
Health, USA)
0
5000
10000
15000
20000
250...
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 ... substitution 1 base downstream of
nucleotide 199 7 in the cDNA
Notation of amino acid changes
Y92S Tyrosine at codon 92 substituted by
serine
R97X Arginine at codon 97 substi...
ABC OF CLINICAL GENETICS - PART 10 docx
... Bioethics, 199 3.
Working Party of the Clinical Genetics Society. Report on the
genetic testing of children. J Med Genet. 199 4; 31: 785 97 .
Advisory Committee on Genetic Testing. Code of practice ... the public.
London: UK Department of Health, 199 7.
Human Genetics Advisory Committee. The implications of genetic
testing for life insurance. Department of Health, 199 7.
Hol...
Fundamentals of Clinical Ophthalmology - part 9 ppsx
... trauma. J Neurosurg 199 8;
55 :96 3–6.
Guy J, Sherwood M, Day AL. Surgical treatment of
progressive visual loss in traumatic optic neuropathy.
Report of two cases. J Neurosurg 198 9; 70; 799 –801.
Harris ... Results of the
Second National Acute Spinal Cord Injury Study. N Eng
J Med 199 0; 322:1405–11.
Crompton MR. Visual lesions in closed head injury. Brain
197 0; 93 :785 92 .
Dutton...
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