Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848676 (male subfertility)
 265 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

DAZ gene deletions at the azoospermia factor (AZF) locus on the Y chromosome, have been implicated as one of the major causes of idiopathic male subfertility. Deletions of the entire DAZ gene have been reported in azoospermia as well as in oligozoospermia. The DAZ gene encodes a RNA binding protein which is expressed exclusively in germ cells. The exact biological role and function of the DAZ protein has yet to be resolved.
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PMID:[From gene to disease; deletion of the DAZ-gene from the Y-chromosome in oligo- or azoospermia ]. 1152 89

Despite the current lack of understanding the mechanism of deleterious effects of Y chromosome microdeletions and their prognostic influence on male subfertility, the Y chromosome microdeletion test is widely used in the diagnostic evaluation of male subfertility. However, currently used diagnostic schemes have not been sufficiently evaluated for their diagnostic performance. The purpose of this study was to analyze a large database of published Y chromosome microdeletions to develop the optimal screening strategy for male subfertility. Therefore, we created a database from genetic and clinical data published in 52 peer-reviewed studies reporting on 512 cases with Y chromosome microdeletions. We developed a computerized procedure with the goal of minimizing the number of genetic markers included in the diagnostic set while maximizing the detection rate in patients with microdeletions. We estimate that 85.6% of all published Y chromosome microdeletions can be covered by a set of six genetic markers (sY84, sY127, sY152, RBMY1, sY147, sY254-DAZ). Inclusion of additional markers brings relatively little to the sensitivity of the test and is potentially related to the population origin.
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PMID:Diagnostic test for Y chromosome microdeletion screening in male infertility. 1514 Mar 73