Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays

Article Abstract:

A study was conducted to determine the consistency of calling single nucleotide polymorphisms by custom genome resequencing microarrays compared with capillary DNA sequencing. It was concluded that custom genome resequencing microarrays are highly consistent with capillary sequencing in calling individual bases in genomic DNA from patients with human disease.

Author: Podolsky, Robert H., Ning Xu, Chudgar, Parnav; Layman, Lawrence C, Chorich, Lynn P., Chunmei Liu, Warrington, Janet A., McDonough, Paul G.
Observations, DNA microarrays, Nucleotide sequencing

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Steroid 5alpha-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia

Article Abstract:

No mutations in the gene for steroid 5alpha-reductase 2 were found in a study of 18 men with disorders of sperm production, but many different forms of the gene were found. This might explain the wide differences in disease symptoms in men with a deficiency of this enzyme, which is involved in the production of sex hormones.

Author: Hines, Randall S., McDonough, Paul G., Tho, Sandra P., Behzadian, M. Ali
Health aspects, Genetic aspects, Genetic polymorphisms, Genital diseases, Male, Male genital diseases

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The human gynome Presidential address

Article Abstract:

The U.S. Human Genome Project is discussed as regards its 50th anniversary. The company reminisces its achievements over the past 50 years, and talks about its future plans.

Author: Elias, Sherman
Human genetics, Genetic research

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Subjects list: Research, Human genome
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