Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction

Objective: This study was undertaken to investigate the involvement of MTHFR gene mutations C677T and A1298C implicated in vascular disease, in patients with abruptio placentae and intrauterine growth restriction (IUGR). Study Design: DNA was extracted from blood samples of 54 patients with placental vasculopathy (18 patients with abruptio placentae and 36 with IUGR) and 114 control patients and amplified by the polymerase chain reaction (PCR). The resulting fragments were subjected to restriction enzyme analysis and resolved by gel electrophoresis. Results: A significant association could be demonstrated between mutation A1298C and both abruptio placentae and IUGR. Combined heterozygosity for mutations C677T and A1298C was detected in 22.2% of abruptio placentae cases. Conclusions: Combined heterozygosity for MTHFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae. Copyright © 2001 Elsevier Science Ireland Ltd.Objective: This study was undertaken to investigate the involvement of MTHFR gene mutations C677T and A1298C implicated in vascular disease, in patients with abruptio placentae and intrauterine growth restriction (IUGR). Study Design: DNA was extracted from blood samples of 54 patients with placental vasculopathy (18 patients with abruptio placentae and 36 with IUGR) and 114 control patients and amplified by the polymerase chain reaction (PCR). The resulting fragments were subjected to restriction enzyme analysis and resolved by gel electrophoresis. Results: A significant association could be demonstrated between mutation A1298C and both abruptio placentae and IUGR. Combined heterozygosity for mutations C677T and A1298C was detected in 22.2% of abruptio placentae cases. Conclusions: Combined heterozygosity for MTHFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae. Copyright © 2001 Elsevier Science Ireland Ltd.ArticleArticl

Human gene mutations. Gene symbol: HFE. Disease: hereditary haemochromatosis.

[No abstract available]Articl

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PvuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space.Articl

Familial adenomatous polyposis coli in South Africa - Molecular basis and diagnosis

ArticleThe original publication is available at http://www.samj.org.zaObjective. To determine the molecular basis and establish a routine molecular diagnostic service for familial adenomatous polyposis coli (FAP) families in South Africa. Design. The coding region of the adenomatous polyposis coli (APC) gene in affected FAP kindreds was screened using heteroduplex analysis, single-strand conformation polymorphism analysis and the protein truncation test. Setting. Department of Human Genetics, University of Stellenbosch, and the Cancer Research Campaign Laboratories, Department of Pathology, University of Edinburgh and Molecular Medicine Centre, Western General Hospital, Edinburgh, Scotland (academic visit of 6 months). Subjects. FAP-affected individuals and at-risk family members in 28 apparently unrelated South African families. Results. A total of nine different APC mutations was identified, allowing DNA-based diagnosis in 20 families. Three of these mutations have not been described previously in other populations. Conclusion. Pre-symptomatic diagnosis using direct mutation detection is cost-effective and surgical intervention has the potential to prevent cancer in at-risk individuals from FAP families.Publisher’s versio

Mismatches in prescribed fire awareness and implementation in Oklahoma, USA

We surveyed residents across Oklahoma about their awareness of prescribed fire. Most respondents expressed support for prescribed fire for managing rangelands. Although there was support for prescribed fire, few individuals implemented it. Of the several reasons given for not burning, the most common were lack of training, lack of equipment, and choosing not to burn. © 2020 The Society for Range ManagementThe Rangelands archives are made available by the Society for Range Management and the University of Arizona Libraries. Contact [email protected] for further information

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia

In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its reported virtual absence in the black population in general. In this study, the molecular basis of primary hypercholesterolaemia was studied in 16 Africans diagnosed with FH. DNA analysis using three screening methods resulted in the identification of seven different mutations in the coding region of the low density lipoprotein (LDLR) gene in 10 of the patients analysed. These included a 6 bp deletion (GCGATG) accounting for 28% of defective alleles, and six point mutations (D151H, R232W, R385Q, E387K, P678L, and R793Q) detected in single families. The Sotho patient with missense mutation R232W was also heterozygous for a de novo splicing defect 313+1G→A. Several silent mutations/polymorphisms were detected in the LDLR and apolipoprotein B genes, including a base change (g→t) at nucleotide position -175 in the FP2 LDLR regulatory element. This promoter variant was detected at a significantly higher (p < 0.05) frequency in FH patients compared to controls and occurred in cis with mutation E387K in one family. Analysis of four intragenic LDLR gene polymorphisms showed that the same chromosomal background was identified at this focus in the four FH patients with the 6 bp deletion. Detection of the 6 bp deletion in Xhosa, Pedi, and Tswana FH patients suggests that it is an ancient mutation predating tribal separation approximately 3000 years ago.Articl