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- Scopus: eid_2-s2.0-0023857417
- PMID: 2895261
- WOS: WOS:A1988M787500003
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Article: Use of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency
Title | Use of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency |
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Authors | |
Issue Date | 1988 |
Publisher | The Lancet Publishing Group. The Journal's web site is located at http://www.elsevier.com/locate/lancet |
Citation | Lancet, 1988, v. 1 n. 8588, p. 729-732 How to Cite? |
Abstract | Analysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease. |
Persistent Identifier | http://hdl.handle.net/10722/170231 |
ISSN | 2023 Impact Factor: 98.4 2023 SCImago Journal Rankings: 12.113 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Goodship, J | en_US |
dc.contributor.author | Malcolm, S | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.contributor.author | Pembrey, ME | en_US |
dc.contributor.author | Levinsky, RJ | en_US |
dc.date.accessioned | 2012-10-30T06:06:51Z | - |
dc.date.available | 2012-10-30T06:06:51Z | - |
dc.date.issued | 1988 | en_US |
dc.identifier.citation | Lancet, 1988, v. 1 n. 8588, p. 729-732 | en_US |
dc.identifier.issn | 0140-6736 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170231 | - |
dc.description.abstract | Analysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease. | en_US |
dc.language | eng | en_US |
dc.publisher | The Lancet Publishing Group. The Journal's web site is located at http://www.elsevier.com/locate/lancet | en_US |
dc.relation.ispartof | Lancet | en_US |
dc.subject.mesh | Chromosome Mapping | en_US |
dc.subject.mesh | Dna - Analysis | en_US |
dc.subject.mesh | Dosage Compensation, Genetic | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Genetic Linkage | en_US |
dc.subject.mesh | Heterozygote Detection - Methods | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Hypoxanthine Phosphoribosyltransferase - Analysis - Genetics | en_US |
dc.subject.mesh | Immunologic Deficiency Syndromes - Enzymology - Genetics | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Nucleic Acid Hybridization | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Phosphoglycerate Kinase - Analysis - Genetics | en_US |
dc.subject.mesh | Polymorphism, Restriction Fragment Length | en_US |
dc.subject.mesh | Sex Chromosome Aberrations - Enzymology - Genetics | en_US |
dc.subject.mesh | T-Lymphocytes - Analysis - Enzymology | en_US |
dc.title | Use of X-chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lau, YL:lauylung@hkucc.hku.hk | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.pmid | 2895261 | - |
dc.identifier.scopus | eid_2-s2.0-0023857417 | en_US |
dc.identifier.volume | 1 | en_US |
dc.identifier.issue | 8588 | en_US |
dc.identifier.spage | 729 | en_US |
dc.identifier.epage | 732 | en_US |
dc.identifier.isi | WOS:A1988M787500003 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Goodship, J=7005401296 | en_US |
dc.identifier.scopusauthorid | Malcolm, S=7101923907 | en_US |
dc.identifier.scopusauthorid | Lau, YL=7201403380 | en_US |
dc.identifier.scopusauthorid | Pembrey, ME=7006415948 | en_US |
dc.identifier.scopusauthorid | Levinsky, RJ=7006539367 | en_US |
dc.identifier.issnl | 0140-6736 | - |