Two genes, RHD and RHCE, encode the antigens of the RH blood group system. The weak D phenotype is caused by many different RHD alleles encoding aberrant RhD proteins, resulting in distinct serologic phenotypes and anti-D immunization. We analyzed seven weak D phenotypes excluding D(el), using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods to detect the changes of all ten RHD exons. The results show that there are four types of weak D in Taiwanese: one case each for CGG to CAG mutation at codon 10, GTG to ATG mutation at codon 174, and GTG to GAG mutation at codon 270, and four cases for GGT to GAT mutation at codon 282. In conclusion, we present the first data of a molecular basis of weak D in Taiwanese, which suggest a clinically relevant potential for anti-D immunization and may improve transfusion strategy in weak D Taiwanese patients.
Loss of heterozygosity of chromosome 10q has been reported in hepatoma. Areas with a high rate of loss of genetic material could harbor putative tumor suppressor genes. PTEN/MMAC1, a candidate tumor suppressor gene located at chromosome 10q23.3, has recently been identified and found to be homozygously deleted or mutated in several different types of human tumors. To determine whether the PTEN/MMAC1 gene is a target of 10q loss of heterozygosity in hepatoma, we examined 42 primary hepatomas for mutations in PTEN/MMAC1 by using nested reverse transcriptase polymerase chain reaction (RT-PCR) of the RNA and single-stranded conformation polymorphism (SSCP) analysis of all genomic exons. Although 2 of 42 hepatoma tissues had aberrant transcripts, 5 matched noncancerous liver tissues also had aberrant transcripts. Southern blot analysis of the entire genomic DNA revealed no genomic change. Therefore, like the TSG101 or FHIT gene, aberrant transcripts of PTEN/MMAC1 using the nested RT-PCR method were a common phenomenon for both cancerous and noncancerous liver tissues, which may not be related to oncogenesis. None of the 42 cases had small deletions, point mutations, or insertions. Our results suggest that the PTEN/MMAC1 gene may not play a role in the pathogenesis of hepatoma.
PTEN/MMAC1, a potential human tumor suppressor gene, has been found to have inactivating mutations in several types of cancer, including breast cancer. The incidence of breast cancer in Chinese is quite low in comparison with Caucasians, and genetic factors may play some roles. To further determine the role of PTEN/MMAC1 in breast cancer in Chinese, we used loss of heterozygosity (LOH), single strand conformation polymorphism (SSCP) with direct sequencing of variant bands, and Southern blot analysis methods to analyze mutations in PTEN/MMAC1 in 52 cases of breast cancer. None had LOH at chromosome 10q23.3. One mutation was identified, a somatic 3-base deletion, in one case. Our results suggest PTEN/MMAC1 does not play a major role in the development of sporadic breast cancer.
G1P[6] rotaviruses were demonstrated previously to be associated with the neonatal nursery outbreak of gastroenteritis in Changhua Christian Hospital that is located in the central region of Taiwan, from September 1994 to May 1995. Meanwhile, rotaviruses were detected in children hospitalized for acute gastroenteritis. Our study characterizes the rotaviruses associated with the nursery outbreak by using genetic approaches. Nucleotide sequence analysis revealed that the VP7 genes of the nursery rotaviruses were distinct from those of the strains circulating in the community. The G1P[6] rotaviruses recovered from the nursery were closely related to another neonatal G1P[6] strain from the northern region of Taiwan in both the VP4 and VP7 genes. The VP4 genes of these nursery strains differed from those of the P[6] human reference strains 1076, M37, RV3, and ST3. Apparently, these nursery rotaviruses were distinct from the strains circulating in the community and seemed to be a variant when compared with P[6] strains reported previously.
We have developed a rapid and simple method to detect the relation between HLA-DQ beta 57 Asp and Chinese IDDM patients. The method involved the selective amplification of a DNA fragment from the HLA-DQ B1 gene by using the mutagenic primers. After PCR, if the HLA-DQ beta 57 was Asp, then there was an artificially created restriction enzyme cutting site. We then can accurately obtain the results by enzyme digestion and electrophoresis. Sixty-nine IDDM patients and 30 nondiabetic control subjects were analyzed using this method. Twenty-two (42%) IDDM patients had non-Asp 57 homozygous, 31/45%) were Asp/non-Asp 57 heterozygous, and 9 (13%) had Asp-57 homozygous. Of the 30 control subjects, the number of cases for these three types were 6 (20%), 18 (60%), and 6 (20%), respectively. The relative risk of homozygous DQ beta 57 non-Asp in our group was 2.9 and the p value was greater than 0.05. Using this kind of approach, we were able to provide a simple, rapid, and non-radioactive method to detect whether the HLA DQ beta 57 was Asp or not.
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