BernheimV1, Main, Exploration, bibRecord, 000964

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Identifieur interne : 000964 ( Main/Exploration ); précédent : 000963; suivant : 000965

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Auteurs : Michèle Chery [France] ; Valérie Biancalana [France] ; Christophe Philippe [France] ; Georges Malpuech [France] ; Hélène Carla [France] ; Simone Gilgenkrantz [France] ; Jean-Louis Mandel [France] ; André Hanauer [France]

Source :

Human Genetics [ 0340-6717 ] ; 1994-05-01.

RBID : ISTEX:916341F7EE5136BFD2EFA6A03E8CE7232824A7C9

English descriptors

Teeft :
- Balanced translocation, Breakpoint, Chimie biologique, Chromosomal translocation, Chromosome, Clone, Genet, Hybrid, Hybrid cell line, Hybrid clones, Hybridization, Locus, Lymphoblastoid, Lymphoblastoid cell line, Marker loci, Metaphase, Metaphase chromosomes, Present study, Primary hypomagnesemia, Probe, Probe pba4b, Secondary hypocalcemia, Silver grains, Somatic cell hybrids, Translocation, Translocation breakpoint.

Abstract

Abstract: Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has been reported in a female manifesting hypomagnesemia with secondary hypocalcemia. In a lymphoblastoid cell line, derived from this patient, the normal X chromosome is preferentially inactivated, suggesting that the patient's phenotype is caused by disruption of an HSH gene in Xp22. In an attempt to define more precisely the position of the X breakpoint, we have constructed a hybrid cell line retaining the der(X)(Xqter-Xp22.2::9q12-9qter) in the absence of the der(9) and the normal X chromosome. Southern blot analysis of this hybrid and in situ hybridization on metaphase chromosomes have localized the breakpoint between DXS16 and the cluster (DXS207, DXS43), in Xp22.2. Thus, if a gene involved in HSH resides at or near the translocation breakpoint, our findings should greatly facilitate its isolation.

Url:

https://api.istex.fr/document/916341F7EE5136BFD2EFA6A03E8CE7232824A7C9/fulltext/pdf

DOI: 10.1007/BF00202829

Affiliations:

Links toward previous steps (curation, corpus...)

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to stream Istex, to step Curation: 000318
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to stream Main, to step Merge: 000973
to stream Main, to step Curation: 000964

Le document en format XML

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<front><div type="abstract" xml:lang="en">Abstract: Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has been reported in a female manifesting hypomagnesemia with secondary hypocalcemia. In a lymphoblastoid cell line, derived from this patient, the normal X chromosome is preferentially inactivated, suggesting that the patient's phenotype is caused by disruption of an HSH gene in Xp22. In an attempt to define more precisely the position of the X breakpoint, we have constructed a hybrid cell line retaining the der(X)(Xqter-Xp22.2::9q12-9qter) in the absence of the der(9) and the normal X chromosome. Southern blot analysis of this hybrid and in situ hybridization on metaphase chromosomes have localized the breakpoint between DXS16 and the cluster (DXS207, DXS43), in Xp22.2. Thus, if a gene involved in HSH resides at or near the translocation breakpoint, our findings should greatly facilitate its isolation.</div>
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Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri