摘要:

SummarySeveral electrophoretically distinct glutathione S‐transferase isozymes from different tissues have been purified and characterized. The data confirm the suggestion that GST‐1, GST‐2 and GST‐3 are the products of separate genetic loci.An apparently muscle‐specific isozyme termed GST‐4 has been identified and shown to differ structurally from GST‐1, GST‐2 and GST‐3. It is likely that GST‐4 is the product of an additional gene locus.Two isozymes termed GST‐5 and GST‐6 were purified from brain. GST‐5 has a different isoelectric point, but shares many structural features with GST‐1. GST‐5 may be a brain‐specific post‐translationally modified product of theGST‐1gene. GST‐6 is an acidic isozyme found in many tissues. The data indicate that GST‐6 is composed of two dissimilar subunits that do not cross‐react with antiserum directed against GST‐1, GST‐2 or GST‐3. These observations therefore suggest th

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01051.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryX‐linked mental retardation with fragile X or Martin–Bell Syndrome (MBS) is a frequent cause of mental retardation. So far segregation analysis of MBS in pedigrees ascertained by different, incomplete criteria has produced results, difficult to interpret, which suggest genetic complexity (Shermanet al. 1985). Biochemical and cell biological studies have failed to provide an assay for genetic heterogeneity in MBS and linkage analysis is the only available method. Such analysis, however, is complicated by the incomplete penetrance of the disease in males and the variable penetrance and expression of the defect in heterozygous females.We have used a new approach to test the heterogeneity of recombination between MBS and the coagulation factor IX gene or the anonymous probe 52A in a group of nine families who have sought genetic counselling at Guy's Hospital. We find that both our families alone and our families plus apparently complete samples of pedigrees reported in the literature, separate into two groups: one tightly and one loosely linked to factor IX. In the combined family sample these represent respectively 0·3 and 0·7 of the total and show recombination fractions of 0·0–0·15 and 0·25–0·5. Furthermore, the families with non‐penetrant carrier males show tighter linkage to factor IX than the others, thus confirming the suggestion of a systematic difference among MBS families in the recombination between the disease and the factor IX locus. By contrast, no significant differences were found in the recombination between 52A and factor IX in the two groups of MBS families or in these families versus those with Hunter syndrome examined in our laboratory.The causes of the linkage heterogeneity we describe are not known. At least two alternatives can be considered: The existence of two MBS loci or differences in the recombination between a single MBS locus and the factor IX gene. The association between incomplete penetrance and tight, linkage to factor IX as well as the discontinuous variation in recombination fraction we have observed seem to favour the for

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01052.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryWe have previously assigned the gene for theαl chain of type IV collagen to chromosome 13. In this report we show that the gene coding for the second chain of this heterotrimer is on the same chromosome. This is the first example of the genes for both chains of one collagen molecule being syntenic

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01053.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryWe have used a eDNA clone for human lecithin: cholesterol acyl transferase (LCAT) and Southern blotting techniques to identify the human LCAT gene in DNA from a series of rodent x human somatic cell hybrids. Our results are compatible with the location of the gene on human chromosome 16, and this has been confirmed usingin situhybridization of the LCAT eDNA to human metaphase chromosomes. These results confirm the earlier studies on LCAT‐deficient patients, indicating that the structural gene for LCAT is on human chromosome 16g2

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01054.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryHuman–rodent somatic cell hybrids containing deleted and translocated human X chromosomes have been used to map genes and sequences in and around the pseudoautosomal region. The following order was found: (DXS69, DXS70, DXS143)–(DXS31, STS)–MIC2. This order is consistent with the known inheritance patterns ofDXS31, STSandMIC2. Assuming that the translocations and deletions we have studied are not complex rearrangements, we conclude that the pseudoautosomal region consists of less than 5 times 106bp o

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01055.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryA human placental alkaline phosphatase (PLAP) eDNA was isolated from aΛgt10 library of the cell line HEp‐2. Southern blots probed with a fragment of the eDNA clone showed that the human genome may contain more than one PLAP‐related sequence. The PLAP probe showed person‐to‐person variation in banding pattern with a number of enzymes. Using a panel of human/rodent somatic cell hybrids the PLAP sequences were mapped to chromosome 2.In situhybridization confirmed this assignment and localized the gene(s) to chromosome 2

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01056.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryThe human c‐erbAl gene has been previously mapped to chromosome 17. We have now mapped c‐erbA2 to the short arm of chromosome 3, using a human genomic probe in Southern analysis of DNA from a panel of human/mouse somatic cell hybrids.In situhybridization using the same probe on metaphase chromosomes has enabled fine chromosome mapping of c‐erbA2 to the chromosome region 3p21

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01057.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryThree loci affect the levels of expression of the 12E7 antigen on red blood cells:MIC2, the pseudoautosomal structural gene for the 12E7 antigen;XG, an X‐linked red cell blood group locus andYG, a polymorphic Y‐linked locus. In this report we describe recombination betweenXGandMIC2and an exchange between the X and Y chromosomes which includedYG. These results have prompted us to propose a new model describing the genetic relationship between the XGaand 12E7 antig

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01058.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryModels of genetic population structure generally assume that emigrants from each local group are drawn at random from the set of individuals born there. We show that small violations of this assumption can have disproportionately large effects on genetic population structure, and we introduce a statistical method for measuring this effect.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01059.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryThe probabilities with which the two members of a couple share no, one or two antigens on each of two loci in ABO‐like systems are derived. As an example, expected values concerning the HLA‐A, B system are compared with observed frequencies in a material of 690 couples. A FORTRAN program for calculation of the gene‐sharing probabilities is avai

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb01060.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY