摘要:

Two cosmids isolated from a flow-sorted chromosome 8 library by hybridization with pSW50 (D8S7) were screened for GT microsatellite sequences. Both contained a positive 900-bp Hind lll-Xba I fragment. Sequencing revealed a complex dinucleotide repeat. Flanking oligonucleotide primers were synthesized, and the polymerase chain reaction products produced by these primers were typed within the CEPH panel of families. A two-allele polymorphism was identified that is in linkage disequilibrium with a previously described insertion-deletion polymorphism at this locus.

ISSN:0001-5652    

DOI:10.1159/000154057

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The distribution of C3 and BF variants was determined in a sample of 239 Kaingang Indians. The corresponding gene frequencies were as follows: BF*S = 0.9393, BF*F = 0.0356, BF*S05 = 0.0251, C3*S = 0.9769, C3*F = 0.0231. The presence of the BF*S05 allele, which has previously been found only in a Brazilian population, suggests that this allele originated in Amerindians. The comparatively low degree of polymorphism with high frequencies of BF*S and C3*S is in accordance with the relatedness of the Kaingang with other Amerindians, Eskimos and Asian populations.

ISSN:0001-5652    

DOI:10.1159/000154058

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Polynesians from five distinct island groups were studied with DNA probe α3’HVR, a highly polymorphic VNTR (variable number of tandem repeats) minisatellite region associated with the α-globin gene cluster. Results showed a paucity of genetic heterozygosity together with clustering of α3’HVR alleles with α-globin DNA haplotypes and α-globin gene rearrangements. This restricted diversity is consistent with population bottlenecks in the colonization of P

ISSN:0001-5652    

DOI:10.1159/000154059

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Polymorphic variants of C3, BF and C6 complement factors have been investigated in schizophrenic patients subdivided according to the existence or not of a family history of both schizophrenia and other psychiatric disorders. To analyze the contingency tables, besides the usual methods, log-linear models have been fitted. Significant associations have been found in the C3 system, with a decrease of C3*F in patients (contradicting previous findings), and in the BF system, with a decrease of FS phenotype among patients (confirming some previous results). No association has been found for the C6 polymorphism (in accordance to previous results). Therefore, the present findings only partially confirm previous results and do not clarify the relationship between complement genetic markers and schizophrenia, stressing some statistical difficulties.

ISSN:0001-5652    

DOI:10.1159/000154060

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The phenotypes and gene frequencies of 3 serum protein systems (Hp, GC and C3) were studied in 114 consecutive patients from all over Greece with gastric carcinoma. Healthy Greeks studied previously in our Department served as controls. No significant differences were found between patients and controls concerning Hp. Significant differences were found in the GC and C3 systems; GC 2-1 and C3F phenotype as well as C3*F gene frequencies were significantly higher in patients than in controls.

ISSN:0001-5652    

DOI:10.1159/000154061

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The Zellweger syndrome is characterized by a defect which results in the abnormal biogenesis of peroxisomes. As a consequence, metabolic activities associated with peroxisomes such as the oxidation of very long chain fatty acids, the synthesis of plasmalogens, and the catabolism of phytanic and pipecolic acids are impaired. Since this disorder is genetically heterogeneous and several complementation groups are known, we were able to study the normalization of peroxisomal activity during the process of complementation. The restoration of catalase and dihydroxyacetone phosphate acyltransferase activities peaked within 3-4 days postfusion while the oxidation of lignoceric acid was much delayed (7-8 days). Electron microscopy indicated that by 6 days following hybridization, peroxisome structure and density in heterokaryons was comparable to normal control cells. The heterogenous biochemical response during peroxisome normalization could be due to several factors including a possible requirement for restoration of peroxisomal structural integrity for maximum activation of certain metabolic pathways.

ISSN:0001-5652    

DOI:10.1159/000154062

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Fifty-eight cases of hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency were collected from both laboratories that have performed the assay since 1972 and from attending physicians in the province of Quebec. Using the postal addresses of the probands, a prevalence map was constructed according to the administrative regions of the province of Quebec. The prevalence was found to be higher in eastern Quebec (1/81,838) than in western Quebec (1/139,086). Fifty probands were of French Canadian origin whereas the remaining 6 were recent immigrants.

ISSN:0001-5652    

DOI:10.1159/000154063

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Finnish hereditary amyloidosis-Meretoja (FAP type 4) is the predominating type of hereditary amyloidosis in the Finnish population, found in more than 200 individuals. We present a Finnish family with familial amyloidotic polyneuropathy (FAP Met30), a type of amyloidosis hitherto not described in the Finnish population. Genealogical tracing back to the 18th century revealed no connections with Swedish FAP families, but introduction from Sweden is the most probable origin of the FAP Met30 gene.

ISSN:0001-5652    

DOI:10.1159/000154064

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The Lebanese allele in the low-density lipoprotein receptor gene is one of the alleles which results in the disease familial hypercholesterolemia. We describe a rapid method for detection of the Lebanese allele, using the polymerase chain reaction to amplify part of exon 13, intron 14 and all of exon 14. The amplified DNA is then digested with HinfI which distinguishes between the normal and Lebanese alleles. A previously unidentified HinfI site is described in the intron. HinfI fragments are separated using polyacrylamide gel electrophoresis, and visualized by ethidium bromide staining.

ISSN:0001-5652    

DOI:10.1159/000154065

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The parental origin of the additional sex chromosomes in 8 cases with high-order sex chromosome polysomies was determined using DNA polymorphisms. The additional sex chromosomes were paternally derived in 3 48, XXYY cases, and maternal in origin in 1 48, XXXY case and 4 49, XXXXY cases. Thus, all extra chromosomes, within a particular patient, were always derived from only one parent. Their most likely origin was successive nondisjunction at the first and second meiotic division in one germ cell. The mechanism involved remains unclear, but appears to be independent of parental ages.

ISSN:0001-5652    

DOI:10.1159/000154066

出版商:S. Karger AG    

年代:1992

数据来源: Karger