Source:http://linkedlifedata.com/resource/pubmed/id/10727997
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2000-6-9
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| pubmed:abstractText |
The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives-uterus and fallopian tubes-in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti-müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely low in the great majority of patients, even before puberty, when AMH levels are normally high. Single-strand conformation polymorphism (SSCP)-polymerase chain reaction (PCR) was a very effective screening method. In 39% of families, characterized by an AMH level normal for the age of the patient, a mutation of the type II receptor of AMH was detected by automatic sequencing, because SSCP-PCR was not very effective. Forty-eight percent of the mutations were homozygous. A 27-base-pair deletion in exon 10 was noted in 45% of the families. When this very common mutation is not taken into account, the proportion of recurrent mutations is 42% for the AMH gene and 33% for the AMH receptor type II gene. In 16% of families, no mutation of either the AMH or the AMH receptor gene was detectable; this group may correspond to mutations of unknown genes involved in AMH processing or in downstream AMH transduction.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Anti-Mullerian Hormone,
http://linkedlifedata.com/resource/pubmed/chemical/Glycoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Growth Inhibitors,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Peptide,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Transforming Growth...,
http://linkedlifedata.com/resource/pubmed/chemical/Testicular Hormones,
http://linkedlifedata.com/resource/pubmed/chemical/anti-Mullerian hormone receptor
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| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
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| pubmed:issn |
0148-7299
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
|
| pubmed:issnType |
Print
|
| pubmed:day |
29
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| pubmed:volume |
89
|
| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
218-23
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:10727997-Anti-Mullerian Hormone,
pubmed-meshheading:10727997-Family,
pubmed-meshheading:10727997-Genes, Recessive,
pubmed-meshheading:10727997-Genetic Testing,
pubmed-meshheading:10727997-Genital Diseases, Male,
pubmed-meshheading:10727997-Glycoproteins,
pubmed-meshheading:10727997-Growth Inhibitors,
pubmed-meshheading:10727997-Homozygote,
pubmed-meshheading:10727997-Humans,
pubmed-meshheading:10727997-Male,
pubmed-meshheading:10727997-Mullerian Ducts,
pubmed-meshheading:10727997-Mutation,
pubmed-meshheading:10727997-Phenotype,
pubmed-meshheading:10727997-Polymerase Chain Reaction,
pubmed-meshheading:10727997-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10727997-Receptors, Peptide,
pubmed-meshheading:10727997-Receptors, Transforming Growth Factor beta,
pubmed-meshheading:10727997-Sertoli Cells,
pubmed-meshheading:10727997-Testicular Hormones
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| pubmed:year |
1999
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| pubmed:articleTitle |
Persistence of Müllerian derivatives in males.
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| pubmed:affiliation |
Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, 1 rue Maurice Arnoux, 92120 Montrouge, France. josso@wotan.ens.fr
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| pubmed:publicationType |
Journal Article,
Review
|