No association of C-1019G promoter polymorphism of 5-HT1A receptor gene with migraine

It is well known that migraine has a strong genetic component, although the type and number of genes involved remains unclear. There is evidence to suggest that serotonin-related genes may be involved in the pathogenesis of migraine. To investigate whether the 5-HT1A receptor gene contributes to the risk of migraine we performed an association study of C-1019G promoter polymorphism of the gene in 102 migraineurs and 93 controls. Subjects were of Han Chinese origin. No significant differences in allele (P=0.82) or genotype frequencies (P=0.71) were seen in migraineurs compared with the controls. When migraine with aura, without aura, with family history, without family history were analyzed separately, the frequencies did not vary significantly. Our results suggest that C-1019G in 5-HT1A is not a major genetic risk factor for migraine.     

Implicit memory is independent from IQ and age but not from etiology: evidence from Down and Williams syndromes

Background In the last few years, experimental data have been reported on differences in implicit memory processes of genetically distinct groups of individuals with Intellectual Disability (ID). These evidences are relevant for the more general debate on supposed asynchrony of cognitive maturation in children with abnormal brain development. This study, comparing implicit memory processes in individuals with Williams syndrome (WS) and Down syndrome (DS), was planned to verify the ‘etiological specificity’ hypotheses pertaining to the skill learning abilities of individuals with ID. Method A modified version of Nissen and Bullemer's (1987) Serial Reaction Time (SRT) task was used. The performances of three group were evaluated. The first group consisted of thirty‐two people with WS (18 males and 14 females). The second group was comprised of twenty‐six individuals with DS (14 males and 12 females). The two groups of individuals with ID were selected so that the groups were comparable as for mental age and chronological age. The third group consisted of forty‐nine typically developed children with a mental age similar to that of the groups with WS and DS. Results The two groups of individuals with ID demonstrated different patterns of procedural learning. WS individuals revealed poor implicit learning of the temporal sequence of events characterizing the ordered blocks in the SRT task. Indeed, differently from normal controls, WS participants showed no reaction time (RT) speeding through ordered blocks. Most importantly, the rebound effect, which so dramatically affected normal children's RTs passing from the last ordered to the last block, had only a marginal influence on WS children's RTs. Differently from the WS group, the rate of procedural learning of the participants with DS was comparable to that of their controls. Indeed, DS and typically developed individuals showed parallel RT variations in the series of ordered blocks and, more importantly, passing from the last ordered to the last block. Therefore, a substantial preservation of skill learning abilities in this genetic syndrome is confirmed. Conclusions The results of the present study document that procedural learning in individuals with ID depends on the aetiology of the syndrome, thus supporting the etiological specificity account of their cognitive development. These results are relevant for our knowledge about the qualitative aspects and the underlying neurobiological substrate of the anomalous cognitive development in mentally retarded people.     

深部脑白质缺血影像表现与MTHFR基因多态性关系的探讨

目的：探讨MTHFR的纯合突变TT型基因是否为诱发皮层下深部脑白质缺血的危险因子，并证实皮层下深部脑白质缺血影像表现与MTHFR基因C／T多态性的关系。资料与方法：选择影像表现符合皮层下深部脑白质缺血诊断标准者30例，对照组30例为影像表现正常者，运用多聚酶链反应－限制性内切酶片段长度多态性技术（PCR－RFLP）检测两组MTHFR基因多态性。结果：采用χ^2检验，得出MTHFR基因纯合突变TT型在病变组与对照组比较差异有显著性（χ^2=5.0794,P＜0．05），病变组TT型较对照组显著升高，说明MTHFR的纯合突变TT型可能是诱发深部脑白质缺血的危险因素。运用成组设计两样本比较的秩和检验，得出TT型和非TT型患者在影像表现的分级程度上有差别，携带TT型基因者影像表现分级重。结论：MTHFR纯合突变TT型基因是深部脑白质缺血发病的危险因子，且TT型基因与深部脑白质缺血的易感性和影像表现呈明显正相关。     

Norepinephrine transporter and α2c adrenoceptor allelic variants and personality factors

It has been suggested that reward dependence, as measured by the Tridimensional Personality Questionnaire (TPQ), is related to central noradrenergic activity, a proposition supported by two studies of urinary norepinephrine metabolite. In the current investigation, 190 normal young Han Chinese were examined, with genetic polymorphisms determined for the norepinephrine transporter (1287G/A) and the α_2c‐adrenoceptor (Del322–325) to test the association with TPQ personality traits. No significant association was demonstrated for these two polymorphisms and any of the TPQ personality‐factor scores, including reward dependence and its subscales. Our negative findings suggest that the investigated polymorphisms of the norepinephrine transporter and the α_2c adrenoceptor do not play a major role in the reward‐dependence personality trait as assessed by TPQ. © 2002 Wiley‐Liss, Inc.     

Non-genetic surrogacy: no cure but problems for infertility?

Non-genetic surrogacy characterizes a situation where the gestational mother is not the genetic mother. It further widens a circle that started with the introduction of in-vitro fertilization (IVF) and creates problems in defining motherhood and identifying at birth the mother who will have the rights and responsibilities of rearing the child.     

D1S549等6个短串重复序列基因座在河南汉族群体的遗传多态性

目的　探讨河南汉族群体的D1S5 49、D3S175 4、D2 2S683和CSF1PO、TPOX、TH0 1基因座遗传多态性分布。方法　ACD抗凝血样采自 2 19名无血缘关系汉族个体 ,酚 氯仿法提取DNA ,应用复合扩增技术对D1S5 49等 6个短串重复序列 (STR)基因座进行扩增 ,采用高分辨率的聚丙烯酰胺凝胶电泳分离、银染法显影技术。统计各基因频率、计算杂合度、多态信息含量、个人识别概率及亲权否定概率。结果　 6个STR基因座基因频率的分布均符合Hardy Weinberg平衡 ,各基因座的杂合度分别为 0 .7964、0 .72 3 1、0 .815 9、0 .75 81、0 .65 2 3、0 .6816;非父排除概率为 0 .62 46、0 .4914、0 .65 0 1、0 .5 2 3 6、0 .40 98、0 .42 87;个人识别机率为 0 .8996、0 .8781、0 .92 3 1、0 .8896、0 .8167、0 .83 92 ;多态信息含量为 0 .72 16、0 .6994、0 .742 1、0 .7169、0 .65 17、0 .710 6。结论　D1S5 49等 6个STR基因座是一组高度多态性的遗传标记系统 ,在人类遗传学及法医学研究中具有重要意义     

Polymorphism in the promoter region of the apolipoprotein AI gene associated with differences in apolipoprotein AI levels: The European Atherosclerosis Research Study

The effect associated with the substitution of adenine (A) for guanidine (G) in the promoter region of the apolipoprotein AI gene (?75 bp) with plasma apo AI and high-density lipoprotein (HDL) levels was investigated in the European Atherosclerosis Research Study (EARS). This is a study of healthy offspring (cases) of fathers who had suffered premature myocardial infarction (MI) before age 55 years (n = 565) and age- and sex-matched controls (n = 1,078) from 12 European countries, divided into 5 regions based on geography and language. The frequency of the polymorphism was not significantly different among the regions and the relative frequency of the rare A allele was similar in cases and controls (0.159 vs. 0.142) combining data from all regions. Individuals with one or more A allele had significantly higher plasma apo AI levels (P < 0.05) than individuals homozygous for the G allele. This effect was consistent in all regions. The data were analyzed separately in males and females. In females, those with one or more A allele had significantly higher apo AI levels (P = 0.05) than individuals homozygous for the G allele, and this raising effect of the A allele was greater in cases than controls for both apo AI (5.23% vs. 1.56%) and HDL (4.48% vs. 1.89%). In males, the A allele was associated with higher levels of apo AI and HDL, but the effect was much smaller and the differences did not reach statistical significance. In the females, where the effect of the A allele was strongest, the effect on apo AI associated with genotype was evident in non-smokers, and individuals with one or two A alleles had 3.6% higher apo AI and 3.14% higher HDL levels than individuals homozygous for the G allele. However, in the female smokers the raising effect of the A allele was greatly reduced (0.56%). Thus genetic variation in the promoter region of the apo AI gene is associated with differences in apo AI and HDL levels in healthy individuals throughout Europe, but the effect is modulated by gender, environmental factors such as smoking, and a family history of MI.     

The behavioral genetics of colony defense in honeybees: Genetic variability for guarding behavior

Guard honeybees stand at the entrance of colonies and facilitate the exclusion of nonnestmates from the colony. In this study, we examined the hypothesis that genetic variability among individuals in colonies might explain variability in guarding activity. To do this, we cross-fostered honey bees between colonies with high-defensive responses and colonies with low-defensive responses in alarm pheromone tests. Individuals from high-defensive colonies were more likely to guard in their own colonies (controls) than cross-fostered bees from low-defensive colonies. Cross-fostered high-defensive bees also were more likely to guard in low-defense colonies. These results support the hypothesis that interindividual differences in guarding behavior are at least partially under genetic control. A positive correlation between number of guards and response to alarm pheromone demonstrates a link between behaviorally separated components of the overall defensive response.This work was supported by NSF Grant BNS 8605604.     

A genetic and environmental time series analysis of blood pressure in male twins

Systolic and diastolic blood pressures were measured on 254 monozygotic (MZ) and 260 dizygotic (DZ) male twin pairs, during middle age (average age 48 years) and at two later age points. Genetic and environmental components of covariation were modeled by time series. For both measures, shared environmental influences were absent and specific environmental influences were largely time-specific. Although heritability was about 0.5 at each time point, genetic variation present at middle age contributed only about 60% to that present 9 years later, the remaining 40% being new. Fifteen years later, at the third time point, no new genetic variation was evident, variation in individual differences being entirely attributable to genetic differences laid down at the two earlier ages. © 1993 Wiley-Liss, Inc.     

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid,in a patient with cytochrome b positive X-linked chronic granulomatous disease

Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.