Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A comparison of methods for gene dosage analysis in HMSN type 1
Autore:
Rowland, JS; Barton, DE; Taylor, GR;
Indirizzi:
St Jamess Univ Hosp, Reg DNA Lab, Leeds LS9 7TF, W Yorkshire, England St Jamess Univ Hosp Leeds W Yorkshire England LS9 7TF Yorkshire, England Univ Coll Dublin, Our Ladys Hosp Sick Children, Dublin 12, Ireland Univ Coll Dublin Dublin Ireland 12 osp Sick Children, Dublin 12, Ireland Natl Ctr Med Genet, Dublin, Ireland Natl Ctr Med Genet Dublin IrelandNatl Ctr Med Genet, Dublin, Ireland
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 38, anno: 2001,
pagine: 90 - 95
SICI:
0022-2593(200102)38:2<90:ACOMFG>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
TOOTH DISEASE TYPE-1A; PERIPHERAL MYELIN; HEREDITARY NEUROPATHY; PRESSURE PALSIES; RECOMBINATION HOTSPOT; DUPLICATION; DIAGNOSIS; LIABILITY; REGION; PMP-22;
Keywords:
HMSN; methods; duplication; gene dosage;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Rowland, JS St Jamess Univ Hosp, Reg DNA Lab, Ashley Wing, Leeds LS9 7TF, W Yorkshire,England St Jamess Univ Hosp Ashley Wing Leeds W Yorkshire England LS9 7TF
Citazione:
J.S. Rowland et al., "A comparison of methods for gene dosage analysis in HMSN type 1", J MED GENET, 38(2), 2001, pp. 90-95

Abstract

A number of different approaches are used in diagnostic laboratories to detect the 1.5 Mb duplication at 17p11.2 seen in approximately 70% of patients with hereditary motor and sensory neuropathy type 1 (HMSN1), Here we compare the methods used in UK diagnostic laboratories to detect the duplication. Samples referred to participating centres for HMSN testing were collected, randomised, and distributed for testing. One hundred samples were examined using five different methods; each method was tested by two independent laboratories. Identical results were obtained from all laboratories for 44 samples. The remaining samples were classified as duplication positive or duplication negative on the basis of the same result by two or more methods. A total of 95 samples were classified by more than one method, two were withdrawn from the study as the same result was not obtained by two methods, and three are thought to have a duplication smaller than 1.5 Mb. Seven of 49 duplications were not detected by methods used to detect the common junction fragment and the use of microsatellites failed to yield a result in four of 95 samples. Sequence tagged site (STS) dosage analysis was found to bethe most sensitive of the methods tested, although this method was found to be the most likely to require repeat analysis. Eight samples gave discordant results between the two laboratories testing by the same method. Upon retesting, reasons for the initial incorrect result included processing and typographical errors.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 10:48:39