Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented for the markers F13A, F13B, CHE2, K, TF, GPT, C3 and Lu arising from linkage comparisons with fragile sites and other genetic markers. Exclusions of at least 10 cM involving fragile site markers were made for F13A (6p23, 9q32, 10q25), F13B (10q23, 10q25, 16p12), CHE2 (16p12), K (10q23), TF (10q23, 10q25, 11q13), GPT (10q23, 10q25, 11q13), C3 (10q23, 10q25) and Lu (10q25, 11q13).
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PMID:A search for linkage in families with fragile sites. 658 Feb 60

Exclusion mapping was applied to individuals with monosomic segments defined by chromosomal banding. A range of genetic markers and blood groups was determined resulting in new exclusions for unassigned markers at the following segments : (3)(p25 leads to pter) - JK, GPT, PI ; (4)(127 leads to 31) - MNS, JK, PI, C3, F13A, F13B ; (7))q22) - LU, F13A ; (12)(p12) - MNS ; (12)(p13) and (15)(q15) - GPT, C3 ; (12) (pter) and (19)(p or qter) - MNS, GPT, PI ; and (18)(q21 leads to 23) - MNS, JK, F13A. These exclusions may be useful for narrowing the regional localisations of any genetic markers subsequently assigned to the chromosome involved in the exclusion. No new gene assignments were made from cases where family data was available.
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PMID:Additions to the exclusion map of man. 697 96

In Greenland, and especially East Greenland (Tasiilaq), a common recessive disease, cholestasis familiaris groenlandica (CFG)/Byler-like disease, occurs in Eskimo children [1]. In a period from 1964-1991, at least 22 children out of about 2,121 newborns were born with this disease (gene frequency q = 0.102). Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease. Polymorphisms and exclusion data were found for the following markers: A1BG, ABO, ACP1, AHSG, C1R, C6, FY, GC, GLO1, GPT, HP, ITIH1, JK, GYPA, GYPB, ORM, P1, PGM1, PI, PON, RH and TCN2. Small positive lod scores (Z < 1.5) were found to the following markers: ITIH1, JK and TCN2. The following markers were nonpolymorphic in this material: ADA, AK1, ALAD, APOA4, APOH, BF, C3, BCHE, CHE2, CO, ESD, FUCA2, F13A1, F13B, KEL, LE, FUT1, LU, PEPD, PGD, PGP, PLG, FUT2, SOD1 and TF.
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PMID:Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers. 834 70