A simple,rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria

The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds. The first system examined, a short tandem repeat (STR), had a PIC of 80 and 73 per cent in these Caucasian and Chinese samples, respectively. The degree of heterozygosity actually observed for this system was 81 and 64 per cent in the Caucasian and Chinese PKU families, respectively. Through the addition of a second polymorphism based on a variable number of tandem repeats (VNTR), the PIC was increased to 90 per cent in Caucasians, but only to 75 per cent in Chinese. The degree of heterozygosity observed for this combination was 94 per cent in European PKU families and 67 per cent in Chinese PKU families. The further addition of an Xmnl RFLP increased both the PIC and the level of heterozygosity in Caucasians to 95 per cent, but did not change either of these measures in Chinese. The combined use of these three polymorphisms significantly increases the informativity of prenatal diagnostic and carrier screening procedures in both Caucasian and Chinese PKU kindreds. Furthermore, since each of these polymorphisms can be studied by PCR-based methods, these new tests can be performed more quickly and easily than previous Southern-based procedures.     

Terminal deletion of Xp in a dysmorphic anencephalic fetus

We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22·1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.     

遗传算法在二氧化硫总量控制中的应用研究

污染物总量控制是目前我国广泛应用的一种控制区域环境质量达标的方法,为了实施城市大气污染物排放总量控制,实现各功能区污染物浓度达标,采用浓度控制与总量控制相结合的方法。本文提出利用遗传算法进行大气污染总量控制,并在传统遗传算法的基础上做了改进,提出基因库和基因重组的方法。     

害虫抗性杂合子死亡率对抗性进化的影响

通过计算机模拟,研究了在R基因频率和种群大小的三种不同组合情况下,害虫抗性杂合于在用药或不用药时对抗性进化的影响.模拟结果表明,1)在任何组合中不用药时R基因的衰退是一个缓慢的过程,除非(RR)和(RS)遗传型的生物适合度很低.若R基因的显性越高,生物适合度越低,则抗性基因衰退越快.2)用杀死全部或绝大多数杂合子的剂量,并有少量敏感个体迁入时,抗性可被控制.但抗性一旦很明显,则此策略不再有效.     

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild-type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first-trimester DNA-based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.     

稻田硝酸盐异化还原成铵细菌群落结构的垂向分布特性

硝酸盐异化还原成铵（Dissimilatory nitrate reduction to ammonium，DNRA）过程，可将土壤中的NO₃^-/NO₂^-还原成NH₄⁺-N以被作物吸收利用，有助于土壤中氮素的保存.选择位于广东韶关市和吉林安图县的两块稻田为研究对象，通过分子生物学方法和高通量测序技术，深入探究了两种稻田土壤（0~1 m）中DNRA细菌丰度和群落结构的垂向分布特性.结果显示：两种稻田土壤中DNRA细菌更多的存在于表层土壤（0~20 cm）中，丰度最低值均出现在深层土壤（90~100 cm）中，且表层样品群落结构的多样性大于深层样品；两个稻田样品间的群落结构体现出明显的空间异质性，安图稻田样品DNRA细菌的丰度和群落结构多样性均大于韶关稻田样品；其中，相对丰度较高的Anaeromyxobacter（28.67%）、Caldimicrobium（19.49%）、Nitrospira（10.90%）和Chthoniobacter（9.15%）是两个稻田中DNRA细菌群落组成中的关键菌属.相关性分析表明，总硫（TS）、有机质（TOM）、含水率（MC）、碳氮比（C/N）与DNRA细菌丰度之间均有显著正相关性（p<0.01，n=20），偏碱性、有机质丰富、氮源缺乏、碳源丰富且C/N较高的环境及适宜的含水率是稻田垂向生态系统中DNRA细菌适宜的生存环境.     

Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence

Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter fades. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation.     

Gene therapy for cystic fibrosis: Will it affect the uptake of prenatal carrier screening?

We report a study which examined whether the decision of 135 couples to accept prenatal cystic fibrosis (CF) carrier screening would be influenced by the advent of gene therapy. A majority (91 couples; 67 per cent) felt that gene therapy for CF would not influence their decision to be screened. Twenty-two couples (16 per cent) stated that they would decline to be screened and an equal number felt ambivalent. Even if the life expectancy of a CF sufferer were increased by gene therapy to normal, 78 per cent of couples would still wish to avail themselves of prenatal carrier screening. A majority of women who decline screening do so because they are opposed to termination of pregnancy. The availability of gene therapy could increase the proportion of couples who accept screening.     

芜菁花叶病毒杭州株P1基因的克隆和在大肠杆菌中的表达

通过反转录ＰＣＲ，克隆得到１．２ｋｂ的ＴｕＭＶＨ１的Ｐ１片段，并在大肠杆菌表达载体ｐＧＥＭＥＸ－１中得以表达，表达产物为可融性融合蛋白，Ｍｒ≈６×１０４．     

一种改进的SON-PCR基因扩增方法

单侧寡聚核苷酸嵌套PCR(single oligonucleotide nested PCR,SON-PCR)是一种简便易行的由已知序列克隆其侧翼序列的方法,但该法的第二轮PCR反应引发效率低,而且得到的产物两端含相同的引物序列,不可直接测序.针对该问题,将第二轮PCR改进为两段式扩增,即先以单侧嵌套引物引发5′端做选择性线性扩增,然后再加入第一轮引物特异引发3′端,使特异性和效率都得到很大提高,并可用PCR产物直接测序.分别用已报道的和改进的SON-PCR法克隆Botrytis cinerea羟甲基戊二酰CoA还原酶基因侧翼序列,后者获得期望结果,证明改进的SON-PCR方法行之有效.国内外尚未见同类报道.图4参7