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Ebook ABC of clinical genetics (3/E): Part 2

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Ebook ABC of clinical genetics (3/E): Part 2

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2dcitan traits in man have been catalogued by McKusickand are listed on die Oinim (online niendelian inheritance in man) database described in chapter

16. In this chapter the clinical and genetic aspects of a few examples of Mime of the more common disorders arc briefly outlined and examples of genet Ebook ABC of clinical genetics (3/E): Part 2

ic disordeis affecting various organ systems air listed. Molecular analysis of some of these conditions is described in chapter 18.Central nervous sys

Ebook ABC of clinical genetics (3/E): Part 2

tem disordersHuntington diseaseHuntington disease is an autosomal dominant disease characterised by pirigrexsive choreiform movements, rigidity, and d

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2inical disease is about 6 per 100000 with a frequency of heleirizygoles of about I pet 10009. Development of frank chorea may be preceded by a ptiwlro

mal period ill which there ate mild psychiatric and behavioural symptoms, lhe age of onset is often between 80 and -10 yeats, but can vary from the fi Ebook ABC of clinical genetics (3/E): Part 2

rst Io the seventh decade. 1 he disorder is progressive, with death occurring alxml 15 yeats after ousel of svmptoms. Surprisingly, affected homozygot

Ebook ABC of clinical genetics (3/E): Part 2

es are not more severely affected than heterozygotes ami new mulalions are exceedingly rare. Clinical treatment trials commenced in 2000 to assess the

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2neralive disease.1 he gene (designated 11 75) for Huntington disease was mapped Io the short arm of chromosome -1 ill 1988, IhiI not finally cloned un

til 1993. The mutation underlying Huntington disease is an expulsion of a CAG trinucleotide re|»eai sequence (see chapter 7). Normal alleles contain 9 Ebook ABC of clinical genetics (3/E): Part 2

85 copies of the repeal, whereas pathological alleles usually contain 37-86 repeats, but sometimes more. Transcription and translation of pilliologic

Ebook ABC of clinical genetics (3/E): Part 2

al alleles results in the incorporation of an expanded polyglutamine trai l in the protein product (hmilinglin) leading to accumulation of intranuclea

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2 intermediate niimlier of repeals do not always ranse disease and may not l>e fully penetrant. Instability of the repeat region is more marked on pate

rnal transmission and most cases of juvenile onset Huntington disease are inherited from an affected father.Prior to the identification of the mutatio Ebook ABC of clinical genetics (3/E): Part 2

n, presympiomalic predictive testing could be achieved by linkage studies if the family structure was suitable. Prenatal testing could also he underta

Ebook ABC of clinical genetics (3/E): Part 2

ken. In some cases tests were done in such a way as to identify whether the fetus had inherited an allele from the clinically affected grandparent wit

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2out having predictive tests themselves. Direct mutation detection now enables definitive confirmation of the diagnosis in clinically affected individu

als (see chapter 18) as well as providing presymptomatic predictive tests and prenatal diagnosis. Gonsiderable experience has been gained withTable 10 Ebook ABC of clinical genetics (3/E): Part 2

.1 Examples of autosomal dominant adult-onset diseases affecting the central nervous system for which genes have been clonedDiseaseGeneFamilial alzhci

Ebook ABC of clinical genetics (3/E): Part 2

mcr ADIamyloid precursordiseasegene íẢl‘1')Al)2ADOE+I axMK’iationAD8Presenilin-1 gene (PS£jV /)AD4Presenilin-2 gene {PSEN 2}Familial amyotrophic later

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2clein gene (SAGA)dewy ImxIv PARK IFrontotemporal dementia withmicrotubule-associatedParkinsonismptotein tail gene (.VIA/’/)Crcutzfeldijakob disease (C

JD)prion protein gene (PRNP)Cerebral autosomal dominant arteriopathy with subcortical infarcts andleiiroeticephalfipathy (CAI) ASH.)NOICtl fFamilial B Ebook ABC of clinical genetics (3/E): Part 2

ritish dementia (FBD)ITM2BBov 10.1 Neurological disorders due IO trinucleotide repeat expansion mutationsHuntington disease (HD)Fragile X svnihoiiie (

Ebook ABC of clinical genetics (3/E): Part 2

FRAXA)Fragile X site F (FRAXE)Kennedy syndrome (SBMA)Myotonic dysưophy (DM)Spinocerebellar ataxias (SCA 1.2.6.7.8.12)Machado Joseph disease (SCAB)Denr

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

Ebook ABC of clinical genetics (3/E): Part 2t for some common neurological disordersDisorderInheritance Gene product

10 Single gene disordersThere arc thousands of genetic traits and disorders described, some of which are exceedingly rare. /XII of the identified mcnd

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