摘要:

Summary1. The recently identifiedχ‐ADH isozyme was purified from human liver and used to raise immune sera.2. Theχform of ADH showed no structural resemblance to the ADH1, ADH2 and ADH3 (class I) or ADH4 (class II) isozymes, as judged by its immunological properties.3.χ‐ADH was found in most human tissues including fetal specimens of 16 weeks gestational age and showed a preference for long chain primary alcohols with a double bond in theβposition.4. We conclude that the locus, designatedADH5, encoding theχisozyme has a separate evolutionary origin from the other A

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00828.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Summary1. Three sets of isozymes of glutathione‐S‐transferase (GST) have been identified in human tissues. They differ in their tissue distribution, incidence of genetic variation, susceptibility to inactivation byN‐ethylmaleimide and in their electrophoretic mobilities.2. The GST1 isozymes exhibit four phenotypes, including a common ‘null’ phenotype attributable to different combinations of three autosomal allelesGST1*1, GST1 *2andGST1*0of frequency 0·13, 0·23 and 0·64, respectively, in the European population.The genetic polymorphism ofGST1is easily demonstrable in adult liver, kidney, adrenal and stomach but the isozymes are only weakly expressed in skeletal and cardiac muscle and not at all in fetal liver, fibroblasts, erythrocytes, lymphocytes and platelets.3. The GST2 isozymes also exhibit variant patterns but these are probably due to post‐synthetic modification rather than allelic variation. The GST2 isozymes are not detectable in erythrocytes, platelets, cultured fibroblasts or lymphocytoid cells but are found in many other tissues, including fetal liver.4. GST3 isozymes were found as relatively strong components in every tissue examined except adult liver, with slight tissue to tissue variability in electropho

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00829.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe results of a cytogenetic and segregation analysis of 110 pedigrees of the mar (X) syndrome are reported. The cytogenetic study indicated an inverse relationship between IQ and the mar(X) frequency in females but not in males. A small but significant effect of age on mar(X) frequency was observed in both males and females, but in females it was restricted to those of normal intelligence, retarded females showing no significant effect.Classical segregation analysis was performed using the programsegran, analyzing sexes separately. a 20% deficit of affected males was observed, the most plausible explanation for the majority of these cases being incomplete penetrance. since this was an unexpected result, the data were scrutinized for possible biases; however, correction of these had little effect on the estimate. the penetrance of mental impairment in carrier females was estimated to be 30% and of mental impairment and/or mar(x) expression to be 56%. thus 44% of carriers cannot be detected with our definition of affection. no evidence for sporadic cases among affected males was found. complex segregation analysis was performed using the sex‐linked version ofpointeranalysing sexes together. this was done in order to test the results from classical segregation analysis, to test for family resemblance and to estimate mutation rates. it was confirmed that there was a 20% deficit of affected males, that, penetrance of mental impairment in females was approximately 30% and that there was no evidence: for sporadic: males. thus all males with the gene appear t o have received it from their carrier mothers and all mutations must occur in sperm. the mutation rate in sperm was estimated to be as high as 7·2 × 10‐4, implying that over one‐half of random carrier females are fresh mutants.our results have important implications for genetic counseling as they imply that all mothers of isolated affected males are carriers, that normal brothers of affected males have a 17% chance of carrying the gene and transmitting it to all their daughters, and that normal sisters of affected males have, at most, a 30% chance of being carriers. since there are biases in the data due to the testing of particular individuals, these probabilities must be considered approximations until they are independently co

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00830.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryA cloned 15 kb genomic fragment from the human α1 (I) collagen gene (COL1A1) has been used as a probe on restriction digests of DNA from human‐mouse somatic cell hybrids. Positive results on hybrids containing chromosome 17 as their only karyotypically visible human material confirm the assignment of this gene to chromosome 17. Hybrids which contain fragments of chromosome 17 are used to confirm the localization to 17q21‐

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00831.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryPeptidase E has been studied in 16 independent human‐Syrian hamster hybrids and 16 subclones. Evidence is presented indicating that the human gene for Peptidase E is on chromosome 17 in the region 17q23 → 17q

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00832.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryWe have confirmed the localization of human acid alpha‐glucosidase (GAA) to 17q21 → q25 and of adenosine deaminase (ADA) to 20q13 → 20qter by examination of hybrid clones derived from a fusion between a human cell line carrying a 17/20 balanced translocation (17pter → 17q25:: 20q13 → 20qter; 20pter → 20q13:: 17g25 → 17gter) and a mouse line deficient in thymidine kinase. These hybrids were constantly maintained in HAT selective media in order to select for the presence of the human thymidine kinase gene on the intact chromosome 17 (17q21 → 22) or the 17/20 (17pter → 17q25:: 20q13 → 20qter) translocation chromosome. We detected human GAA by rocket immunoelectrophoresis, using a heterologous antibody raised against human acid alpha‐glucosidase. A clone which contained the 17/20 translocation and no intact chromosome 17 was still positive for GAA. This finding confirms the exclusion ofGAAfrom 17q25 ‐0 17qter reported by Nickelet al. (1982). Combined with earlier results (Weilet al. 1979),GAAcan be assigned to 17q21 → 17q25. A clone which contained only the 17/20 translocation chromosome and no intact chromosome 20 contained ADA. This confirms the previous localization ofADAto 20q13.2 → qter by gene dosage

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00833.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummarySegregation of biliverdin reductase (BLVR) in 11 independent human‐mouse hybrids confirms the assignment to chromosome 7 in man and gives a regional localization of 7pter → 7q22. Isoelectric focusing of BLVR reveals genetically determined variation among inbred strains of m

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00834.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00835.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryA method is described for obtaining migration matrices from data on frequency distributions of transmissible traits in at least two different periods. In the present case, surname frequency distributions were used. In this way migration matrices describing rates of movement among nine areas of Sardinia were found for the period 1850–1970. Data were kinship matrices from surname distributions over two or three time periods. Population growth was included in the model under the assumption that expected family size in all areas was constant, or that outside estimates of the relative family sizes exist. Use of variable vs. constant growth rates did not drastically affect the estimated matrices.The matrices estimated for different time periods are similar. Estimates of net migration into the different areas were relatively insensitive to different methods of summarizing statistics.The elements of the matrices indicate strong effects on migration rates of distance between areas, and somewhat weaker effects of economic differences. The diagonal elements of the matrices show a high negative correlation with independent estimates of rates of immigration into the same area

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00836.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe authors have provided a new recurrence risk table of ankylosing spondylitis. The mathematical problem solved was to combine a continuous distribution for polygenic inheritance with a discrete one, HLA‐B‐27 antigen ‘yes’ or ‘no’. Previously the highest probability of recurrence was 0.0785 in the case of an affected mother's son and it increased to 0.1416 when the B‐27 antigen positive affected mother had a B‐

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb00837.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY