Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The adenylate kinase 1 (AK1), adenylate kinase3 (AK3), and aconitaseS (ACONS) genes have been assigned to chromosome 9 in man by employing an X/9 translocation segregating in man-mouse somatic cell hybrids. Segregation was controlled by taking advantage of the HAT/8-azaguanine selection-counterselection strategy directed at the X-linked HPRT locus. Assignment of AK1 to chromosome 9 has suggested the assignment of the ABO blood-group locus and the nail-patella (Np) locus to 9, since both loci are linked to AK1 by family studies.
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PMID:Mapping AK1, ACONs, and AK3 to chromosome 9 in man employing and X/9 translocation and somatic cell hybrids. 19 13

Patients with alloantibodies may request directed blood donations from their relatives despite the lack of any scientific data suggesting that blood from these donors is safer. We have derived formulas that are applicable to any ethnic group for calculating the probability that a given class of relatives will have compatible blood for a given patient. These formulas apply to any non-X-linked blood group system (including the ABO and Rh systems) and are simple enough for routine blood bank use in advising patients as to how likely they are to obtain compatible donors. Use of these formulas may be helpful in counseling patients who may have difficulty in obtaining compatible directed donors because of antibodies or an unusual blood type. In general, the presence of an alloantibody should not automatically exclude a patient from utilizing directed donors. Moreover, for patients with antibodies to high-incidence antigens, directed donations from siblings may be the easiest way to obtain compatible blood.
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PMID:The probability of obtaining compatible blood from related directed donors. 203 52

Professionals in genetics, medicine, and biology education have in recent years called for placing greater emphasis on human genetics in the education of the nation's citizenry. Since a large collegiate audience for such education is found in the general biology classroom, we elected to analyze 13 current and widely used general biology textbooks to determine their human genetics content. The analyses revealed that from 6.68 to 15.51 percent of the books' pages were devoted to genetics, but only 0.75 to 3.44 percent of the pages dealt specifically with human genetics. The number of human genetic traits discussed in the books ranged from four to 24, with a mean of 15.77. Nine different chromosome aberrations were cited, with Down, Klinefelter, and Turner syndromes being mentioned most often. Twenty autosomal dominant, fifteen autosomal recessive, and seven X-linked traits were used as examples in the various textbooks. Most frequently cited single-gene conditions were the ABO blood groups, sickle cell anemia, phenylketonuria, hemophilia, and red/green colorblindness. The books varied considerably in the emphasis given to social applications of medical genetics. Based on the findings of this study, we offer several recommendations for the improvement of the human genetics content of general biology textbooks and courses.
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PMID:An analysis of the human genetics content of 13 general biology textbooks. 732 7

Cord blood contains stem cells in amounts similar to or slightly less than those present in a bone marrow collection to be used for bone marrow transplantation (BMT). Too few cord blood transplants (CBT) have yet been performed to define the ability to achieve engraftment and the rate of engraftment. Two cord blood transplants have been performed using granulocyte-macrophage colony stimulating factor (GM-CSF) to hasten engraftment. Two children, aged 5 and 6 years received a CBT using HLA-identical stem cells collected at the birth of a sibling. One child had X-linked lymphoproliferative disease (XLP), and the other, acute lymphoblastic leukemia in second complete remission. One had an ABO and one an Rh blood group mismatch. Conditioning therapy consisted of cyclophosphamide, melphalan, and antithymocyte globulin or busulphan and cyclophosphamide. Graft-versus-host disease prophylaxis was methotrexate and cyclosporine or cyclosporine. Both children were given GM-CSF at 5 micrograms/kg/day from day 1 until the absolute neutrophil count (ANC) reached 1.0 x 10(9)/L for 3 consecutive days. If this level was not reached by day 14, the dose of GM-CSF was doubled. Both children engrafted rapidly, with ANCs reaching 0.5 x 10(9)/L in 12 and 16 days. Engraftment was confirmed by blood group in both and sex chromosome typing in one. Both children developed mild GVHD localized to skin, which resolved with steroid therapy. The child with XLP was cured and has survived for 34 months; the second child has survived 27 months with normal marrow function but has had a relapse of leukemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Use of granulocyte-macrophage colony-stimulating factor in two children treated with cord blood transplantation. 774 3

Twin and family study findings indicate a substantial heritability of digit ratio (2D:4D), a putative marker for the masculinizing effects of prenatal androgen exposure. Functional polymorphisms of the X-linked androgen receptor gene, i.e., androgen sensitivity, contribute somewhat to the expression of 2D:4D in men, but otherwise the genetics of 2D:4D is unknown. This study investigated differences in 2D:4D by self-reported ABO blood type and Rhesus factor, two easily collectible genetic traits, in two samples (combined N=1273). Effects of blood groups on 2D:4D were small and not significant in all tests in both samples; however, two consistent patterns emerged across samples. Of the ABO types, AB had the lowest right-hand 2D:4D, the highest left-hand 2D:4D, and the lowest right-minus-left difference in 2D:4D, and Rhesus factor Rh- had higher left-hand 2D:4D and lower right-minus-left difference in 2D:4D than Rh+. If replicable, this may suggest genes contributing to the expression of 2D:4D reside in the vicinity of the gene loci (chromosomal locations: 9q34.2 and 1p36.11) of these blood groups or pleiotropic effects of the blood-group genes.
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PMID:Digit ratio (2D:4D), ABO blood type, and the Rhesus factor. 1923 4

Wiskott-Aldrich syndrome, a rare X-linked hereditary syndrome, is characterized by immunodeficiency, thrombocytopenia, and eczema. The underlying T-cell defect renders renal transplantation and immunosuppressive treatments uncertain. The present case exhibited the mild clinical manifestation, regarded as X-linked thrombocytopenia. He successfully underwent a living-donor ABO-compatible renal transplantation and splenectomy in 2002, and thereafter experiencing no severe rejection, serious infection, or malignancy for more than 10 years. Though IgA nephropathy was detected 8 months after transplantation, the patient's renal function and proteinuria were stable without any treatment. The present case showed a successful long-term graft survival and the importance of splenectomy added to renal transplantation.
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PMID:Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. 2737 79