Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome of >1 in 10. The maternal serum human chorionic gonadotrophin (MShCG) was markedly elevated at 4.19 MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth restriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chromosome 14 was also associated with fetal growth restriction and elevated second trimester MShCG, suggesting a common link. Further studies need to be done to determine if indeed elevation of second trimester MShCG is associated with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Copyright © 2001 John Wiley & Sons, Ltd.     

Evaluation of British Columbia Ministry of Forests aboriginal rights and title-consultation guidelines — the Ditidaht case study

The British Columbia Ministry of Forests’ “Aboriginal Rights and Title — Consultation Guidelines”, prepared in response to a Supreme Court of Canada decision on aboriginal rights and title, presents an interesting example of how common law influences provincial environmental policy. The policy addresses the British Columbia government’s fiduciary duty to First Nations and requires staff to consult with aboriginals during operational forestry planning. Adequate understanding of the policy is essential for lawful forest management. The Consultation Guidelines have become a key environmental policy in British Columbia.This evaluation will increase understanding of the Consultation Guidelines and aboriginal title for forest practitioners and policy makers. Within the context of a Vancouver Island case study, the policy is analyzed in view of the following criteria: effectiveness, efficiency, equity, and effort. Even though the policy is over 2 years old and the government is actively managing forests in an area under negotiation for treaty, the policy has yet to be implemented. As a result, aboriginal concerns about the long-term environmental and economic sustainability of current forest practices go unheeded. This situation potentially jeopardizes the government’s ability to address its fiduciary responsibilities to aboriginals, as defined in case law and the Canadian Constitution.     

Characteristics of urban ozone level in Hong Kong

ＩｎｔｒｏｄｕｃｔｉｏｎＯｚｏｎｅｉｓａｎａｉｒｐｏｌｌｕｔａｎｔｆｏｒｍｅｄｔｈｒｏｕｇｈａｓｅｒｉｅｓｏｆｐｈｏｔｏｃｈｅｍｉｃａｌｒｅａｃｔｉｏｎｉｎｔｒｏｐｏｓｐｈｅｒｅａｎｄｉｓｏｎｅｏｆｔｈｅｍｏｓｔｉｍｐｏｒｔａｎｔｐｈｙｔｏｔｏｘｉｃａｉｒｐｏｌｌｕｔａｎｔｓ.Ｉｎｇｅｎｅｒａｌ,ｄｉｒｅｃｔｅｍｉｓｓｉｏｎｏｆｏｚｏｎｅｆｒｏｍａｎｔｈｒｏｐｏｇｅｎｉｃｓｏｕｒｃｅｓｉｓｎｅｇｌｉｇｉｂｌｅｉｎｔｈｅｆｒｅｅｔｒｏｐｏｓｐｈｅｒｅ .Ａｃｃｏｒｄｉｎｇｔｏｔｈｅｓｔｕｄｙｏｎｆｏｒ…     

Effect of long-term fertilization on soil nitrate distribution

ＩｎｔｒｏｄｕｃｔｉｏｎＦｅｒｔｉｌｉｚａｔｉｏｎｉｓｅｓｓｅｎｔｉａｌｆｏｒａｇｒｉｃｕｌｔｕｒａｌｐｒｏｄｕｃｔｉｏｎ ,ｂｕｔｕｎｒｅａｓｏｎａｂｌｙａｐｐｌｙｉｎｇｆｅｒｔｉｌｉｚｅｒｓｃｏｕｌｄｒｅｓｕｌｔｉｎｓｅｒｉｅｓｏｆｐｒｏｂｌｅｍｓｓｕｃｈａｓｃｒｏｐｑｕａｌｉｔｙｄｅｃｌｉｎｅ,ｆｅｒｔｉｌｉｚｅｒｕｓｅｅｆｆｉｃｉｅｎｃｙｄｅｃｒｅａｓｅ,ｒｅｓｉｄｕａｌｆｅｒｔｉｌｉｚｅｒｓｐｏｌｌｕｔｉｏｎ ｇｒｏｕｎｄｗａｔｅｒａｎｄｒｉｖｅｒｓａｎｄｎｉｔｒｏｇｅｎｃｏｎｔｅｎｔｅｄ …