摘要:

The distribution of five restriction fragment length polymorphisms (RFLPs) of the APOA1-C3 gene cluster and their influence on serum lipids and apolipoprotein levels was investigated in 151 healthy Chinese of both sexes. The frequencies of the rare alleles at ApaI, BanI, Xmnl (Al) and SstI (C3) sites were significantly different in the Chinese when compared to Caucasians as follows: ApaI: 0.25 vs. 0.42 (p& < 0.02); BanI: 0.33 vs. 0.16 (p& < 0.01); XmnI: X2, 0.30 vs. 0.14, and X3, 0.08 vs. 0.05 (p = 0.001); Sstl (C3): 0.23 vs. 0.12 (p = 0.01). The frequency of P2 (Pstl) at 0.04 was similar to that in Caucasians (0.07). The distribution of the genotypes of all the RFLPs was in Hardy-Weinberg equilibrium in this population. A significant association of the Sstl polymorphism of the C3 region with the serum high-density lipoprotein (HDL)-cholesterol level was observed in both men and women, the rarer allele (S2) being associated with higher levels (p < 0.05). 5.8% of the sample variance of the HDL-cholesterol level in this sample could be explained by the Sstl polymorphism of the C3 region (F = 6.07, p = 0.003). The association of the Sstl locus with serum HDL-cholesterol was stronger in males than in females (R2 = 13.8 and 6.7%, respectively). There was a similar trend of association of the serum apolipoprotein A-I level with the Sstl polymorphism, though it did not reach statistical significance. There was no association between the levels of any of the lipid and apolipoproteins studied with RFLPs of the APOA1 gene.

ISSN:0001-5652    

DOI:10.1159/000154298

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Sib pair tests for linkage to a quantitative trait or affection status are examined by simulation. A sibship of size s contributes only s – 1 independent sib pairs but all s(s – 1)/2 pairs are needed for an efficient test. Redundancy increases with sibship size. Using simulated data on the null hypothesis of no linkage, we have considered equal and unequal weights. Unequal weights lose power as measured by the equivalent number of observations, and goodness of fit to the theoretical distribution is degraded. The Fisher z(r) test with equally weighted pairs is more reliable than any t(r) test based on conjectured degrees of freedom, but significance levels must be established by simulation if the number of pairs is small or redundancy is large. An approach to parametric analysis through nuisance parameters is discus

ISSN:0001-5652    

DOI:10.1159/000154299

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

An extended polymorphism of the coagulation factor XIIA can routinely be detected in human plasma samples and white cell lysates by isoelectric focusing in polyacrylamide gels containing 3 M urea in the pH range 5–8. Analyses of 184 families with 513 children confirmed the formal model proposed by Suzuki et al. [Am J Hum Genet 1988;43:170–174]. Four common alleles, F XIII*1A, 1B, 2A, 2B, at an autosomal locus control the expression of ten phenotypes. On the basis of the population sample from southwest Germany the frequencies of the common alleles F XIIIA*1A, 1B, 2A, 2B were calculated as 0.175, 0.609, 0.011, and 0.205, respectiv

ISSN:0001-5652    

DOI:10.1159/000154300

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

While much effort has gone into developing efficient algorithms for calculating multipoint likelihoods, these calculations still form a significant bottleneck in the construction of genetic linkage maps. Our approach to this problem is based on incremental processing techniques, which attempt to reduce the time required to perform iterative computations by storing intermediate results during the initial iteration, so that they may be reused with little extra computation in subsequent iterations. We have developed an incremental program which provides a more efficient substitute for the CMAP program of the LINKAGE package. Our incremental approach stores intermediate results of the computations in the form of a rational function. Thus, computing the likelihood for one position of an unmapped marker locus requires only the reevaluation of the rational function. Timing data suggest that when pedigrees are fully or nearly fully typed, our program runs about 3-fold faster than CMAP to compute the likelihood for one position of a marker locus. Additional positions do not add any appreciable time to our program; thus, speedups become more pronounced as more marker locus positions are considered.

ISSN:0001-5652    

DOI:10.1159/000154301

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We present a modification of the MLINK program, which enables the formal incorporation of data on loss of constitutional heterozygosity (LOCH) into likelihood calculations. This is an implementation of a previously described approach to localise tumour suppressor genes involved in inherited cancer predisposition. LOCH data are treated as additional observations on disease phenotype. The main effect of including extra data is to enhanace the power to detect linkage. In this way, the method facilitates the use of small families, in particular parent-offspring pairs, which would otherwise be uninformative. The technique also has an advantage in view of the increasing use of archival material, which is often derived from specimens taken for histopathological analysis, and may contain tumour tissue which can also be used to obtain additional information. We describe the use of the program, the interpretation of the results and the advantages and limitations of this approach.

ISSN:0001-5652    

DOI:10.1159/000154302

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

One hundred and sixty-nine Javanese males were screened for the presence of red cell glucose-6-phosphate dehydrogenase (G6PD) variants by a dye decoloration screening test and starch gel electrophoresis. The frequency of G6PD deficiency was 14%. Three non-deficient electrophoretic variants with mobilities of 95, 105 and 107% of GdB+ were encountered. Sixteen G6PD-defïcient subjects were further investigated for the presence of mutations at nt95 A→G, nt487 G→A, nt493 A→G, nt563 C→T, nt1024 C→T, nt1376 G→T, nt1388 G→A and the silent mutation (nt1311 C→T) of the G6PD gene by natural or artificially created amplified restriction sites. They were identified by the polymerase chain reaction and electrophoresis of restriction-digested products. Five subjects had the Mediterranean mutation (nt563 C→T), but only one had simultaneous presence of nt1311(T). The next common mutations were 1376(T) in three subjects and 487(A) in two subjects. Five of the sixteen subjects had the nt 1311(T) mutation giving an overall frequency of 0.31. The other four mutations were absent in this

ISSN:0001-5652    

DOI:10.1159/000154303

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Alpha-1-antitrypsin phenotypes of umbilical cord serum from 741 Polish newborns were studied by isoelectric focusing. The frequencies of the PI alleles were: PI*M1 = 0.7199, PI*M2 = 0.1613, PI*M3 = 0.0965, PI*S = 0.0094, PI*Z = 0.0067, and PI*Var(F, I, L) = 0.0060. The data obtained for Poland were compared to those for other European populations.

ISSN:0001-5652    

DOI:10.1159/000154306

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154304

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154305

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154297

出版商:S. Karger AG    

年代:1995

数据来源: Karger