Tracking microdeletions of the AZF region in a patrilineal line of infertile men

Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infertility who showed deletions in the AZF region. In family 1, the father and a brother did not show microdeletions. However, a son showed a microdeletion in AZFa (sY84) and an azoospermic sperm analysis, but another son had a microdeletion in AZFa (sY84) and AZFb (sY127) and a normal sperm analysis. The father of family 2, with severe oligozoospermia, had a microdeletion in the AZFa region (sY84) and his son, conceived by intracytoplasmic sperm injection, also showed the same microdeletion. In the other families, only the men with an altered sperm analysis had a microdeletion. It is possible that in family 1, the father and brother who did not show microdeletions in this study, could have microdeletions in regions upstream or downstream of the one analyzed. The treatment with intracytoplasmic sperm injection can result in vertical transmission of microdeletions of the AZF region and can also cause the expansion of a de novo mutation. This finding reinforces the necessity of an investigation of microdeletions of the Y chromosome in individuals who are candidates for assisted reproduction, as well as genetic counciling and follow-up.     

Influence of alcohol abuse of the father on the intensity of clinical picture of posttraumatic stress disorder

The subject of the study is the influence of alcohol abusing father on the clinical picture of PTSD patient. The father plays an important identification role in the psychological development of his son. Therefore it is to be expected that an alcohol abusing father will become a (negative) role model for his son and that he will also later on in stressful situations try to reduce the anxiety and depression by consuming larger quantities of alcoholic drinks. The aim of the study is to find out whether there are differences in PTSD clinical picture in patients whose fathers abused alcohol and in those whose fathers did not have such problem. The participating patients were from the Psychiatric hospital "Sveti Ivan". Mississippi and Watson scales were applied, as well as a questionnaire named "Early traumas" from which the variable "alcohol abuse of the father" was selected. The analysis shows that the participants who in their family histories had fathers who abused alcohol developed a milder clinical picture of PTSD, i.e. they reactions to the stress later on were less sensitive compared to the control group of participants whose fathers did not abuse alcohol and whose clinical pictures of the disorder were more severe.     

Borna disease virus infection in two family clusters of patients with chronic fatigue syndrome.

A high rate of Borna disease virus (BDV) infection has been demonstrated in patients with chronic fatigue syndrome (CFS). Herein, we focused on BDV infection in two family clusters of patients with CFS: a father, mother, two sons and one daughter (family #1); and a father, mother, two daughters and one son (family #2). All members, except for the elder son in family #1 and the father and son in family #2, were diagnosed with CFS. The results supported that all the family members with CFS were infected with BDV, as evidenced by the presence of antibodies to viral p40, p24 and/or gp18 and BDV p24 RNA in peripheral blood mononuclear cells. The healthy members, except for the father of family #2 who was positive for antibody to p24, were all negative by both assays. Follow-up studies in family #1 continued to reveal BDV antibodies and BDV RNA, except in the mother, who lost the RNA upon slight recovery from the disease.     

Is population growth conducive to the sustainability of cooperation?

This paper asks whether population growth is conducive to the sustainability of cooperation. A simple model is developed in which farmers who live around a circular lake engage in trade with their adjacent neighbors. The payoffs from this activity are governed by a prisoner's dilemma “rule of engagement.” Every farmer has one son when the population is not growing, or two sons when it is growing. In the former case, the son takes over the farm when his father dies. In the latter case, one son stays on his father's farm, whereas the other son settles around another lake, along with the “other” sons of the other farmers. During his childhood, each son observes the strategies and the payoffs of his father and of the trading partners of his father, and imitates the most successful strategy when starting farming on his own. Then mutant defectors are introduced into an all-cooperator community. The defector strategy may spread. A comparison is drawn between the impact in terms of the sustainability of cooperation of the appearance of the mutants in a population that is not growing, and in one that is growing. It is shown that the ex-ante probability of sustaining the cooperation strategy is higher for a community that is growing than for a stagnant community.     

Father-son recognition in hanuman langurs (Presbytis entellus): A field experiment in India

A juvenile male langur, about 15 months old, was removed from his natal one-male-multi-female troop and reintroduced after 3.3 weeks. In attempts to protect the juvenile, his presumed father, the troop's resident male, charged the primatologist who removed and released the individual. After the second removal, the juvenile was introduced into a neighboring male band. The resident male attacked the band members to keep them away from his females. However, after 3.4 weeks of separation, the father and the son recognized each other, because the resident male showed no aggression towards his son and the latter did not run away from him. Kin-recognition is considered to be a mechanism in structuring coalitions within langur male bands.     

甘肃汉族头面部特征亲子相关研究

本文对甘肃永登农村地区69个汉族家庭的父母和成年子女头面部特征进行了亲子相关研究。结果表明:头颅部指数似乎儿子受父亲母亲的影响较强,测量项目似乎女儿受父亲的影响较强;脸面部测量项目的亲子相关表现出一定程度的方向性,儿子或女儿垂直方向的尺寸(高度)似乎受父亲的影响较强,横向(宽度)似乎受母亲的影响较强,从指数上来看,母亲对子女脸面部的影响似乎比父亲强一些。     

中国南方汉族人群6个Y-STR基因座 遗传多态性及法医学应用

为研究中国南方汉族人群DYS393等6个Y-STR基因座的遗传多态性并用于法医学鉴定,通过采用PCR复合扩增和基因测序仪荧光检测方法,检查204个无关男性个体,调查南方汉族的6个Y-STR基因座的单倍型频率,并对93对真父子和38对非父子的亲子鉴定样本进行检测。结果DYS393基因座检出5个等位基因,DYS19基因座检出6个等位基因,DYS389Ⅱ基因座检出8个等位基因,DYS390基因座检出6个等位基因,DYS391基因座检出4个等位基因,DYS385 基因座检出44个等位基因,共检出176种单倍型。93对真父子中,观察到2例分别有1个基因座突变。检测38对非父子,有1个或2个Y-STR基因座排除的案例各有1例（2.6%）;有3 个和3个以上的Y-STR基因座可以排除父子关系的案例为35例（92.1%）;6个Y-STR基因座不能排除父子关系的为1例。结果表明6个Y-STR基因座具有丰富的遗传多态性,可用于法医学个体识别和亲子鉴定。Abstract: To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI PrismTM 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined in a total of 204 unrelated males from southern Han population of China. Ninety-three father/son pairs with demonstrated paternity and thirty-eight non-paternity father/son pairs were detected by using our Y-STR system. As a result, the number of alleles for DYS393、DYS19、DYS389Ⅱ、DYS390、DYS391and DYS385 were 5, 6, 8, 6, 4 and 44 , respectively. A total of 176 haplotypes at 6 Y-STR loci were found. Two father/son pairs with single Y-STR mutation were observed in the 93 father/son pairs with demonstrated paternity. Among the 38 non-paternity father/son pairs, one case with one Y-STR exclusion of paternity, one case with two Y-STR exclusions and 35 cases with 3 or more Y-STR exclusions were observed. Non-exclusion of paternity at 6 Y-STR loci was found only in one case. This result indicated that the six Y-STR loci were highly polymorphic and are suitable for personal identification and paternity testing.     

Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

Summary A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost.     

Occult HBV Infection May Be Transmitted through Close Contact and Manifest as an Overt Infection

The importance of transmission of occult HBV infection (OBI) via transfusion, organ transplantation and hemodialysis has been widely recognized. However, data regarding the transmission of OBI through close contact remain limited. In this study, serum samples were obtained from a child and his parents. The child had received the standard vaccination regimen at birth and produced protective antibody. Sera were tested for HBV serological markers. Nested PCR assays were used to detect HBV DNA and the amplicons were cloned and their sequences subjected to phylogenetic analysis. The results showed that both parents had occult infections while the child had an overt infection. Twelve, eleven and nine clones, from the father, mother and son, respectively, were sequenced. Serotypes adrq+, ayw1, ayw and ayr were found in the father and ayw1, adw2 and adwq+ in the mother; adrq+ was the only serotype in son. Genotype B, subgenotype C2 and a recombinant were identified in the father and genotype B, subgenotype C5 and three recombinants were found in the mother. Subgenotype C2 was the only genotype identified in the child. A phylogenetic tree showed that all of the child’s sequences and most of the father’s sequences clustered together. However, none of mother’s sequences clustered with those of the child. The surface gene from the child and his father had the same amino acid substitution pattern (T118K, T123N and G145A). We concluded that the father was the source of the son’s HBV infection, suggesting that occult HBV infection may be transmitted through close contact and manifest as an overt infection.     

It Can Be Very Tempting to Throw Out the Baby With the Bathwater: A Father-and-Son Commentary on “Does IQ Really Predict Job Performance?”

In this commentary, both father and son respond to the target article (Richardson and Norgate, this issue) from different perspectives. The son, a creativity researcher, generally echoes Richardson and Norgate's arguments, arguing for the construct of creativity to be considered as a supplement to IQ tests for predicting work success. The father, an IQ test developer, is more critical of some of Richardson and Norgate's conclusions and points to gaps in their overview.     

Experimental study on sexual behavior between mother and son in Japanese monkeys (Macaca fuscata)

A mother, her adult son, four adult males and six adult females from a free-ranging group at Katsuyama were paired in a cage in the sexual seasons from 1976 to 1980. The paired subjects were classified into the following three types: mother and son, familiar pairs and unfamiliar pairs. The familiar pairs consisted of monkeys who had been in the Katsuyama group until about six months before the experiment. The unfamiliar pairs consisted of monkeys who had not met each other at all or who had not met each other for more than eight years before the experiment. Serial mounts which terminated with ejaculation occurred in nine of ten unfamiliar pairs, four of five familiar pairs, but there were none between the son and mother. The son and mother did not appear to be sexually aroused between themselves, although they were sexually active to other partners. However, on rare occasions, the son mounted singly on the mother, and on one occasion he ejaculated. Their interaction did not change essentially during the three years. The son rarely mounted serially on a female who had a close relationship with his mother.     

UNDESCENDED TESTICLE COMPLICATING ACUTE APPENDICITIS

1. Symptoms referable to compression of the spermatic cord and incarceration of right testicle, obscure the underlying pathologic changes occurring in the vermiform appendix.2. Testicular underdevelopment and resulting subnormal cerebration.3. Operative technique:(a) Pre-operative diagnosis: Incarceration of right testicle and possible perforative appendicitis.(b) Descent of right incarcerated testicle. Bassini closure.(c) Exploratory laparotomy: Intramuscular gridiron incision.4. Operative findings:(a) Strangulation and incarceration of undescended right testicle and spermatic cord in inguinal canal.(b) Copious pus, free in peritoneal cavity. An adherent, sloughing, perforative, retrocecal appendix identified, left undisturbed and free drainage established.5. Progress:(a) Eventful recovery from acute suppurative appendicitis following drainage of appendical focus.(b) Marked development following the operative descent of an incarcerated testicle in a backward boy, age twelve, who had a bilateral cryptorchism.     

Constitutional extra chromosomal element in a family with Wilms' tumor

Summary We report the presence of an extra chromosomal element in a family with Wilms' tumor (WT). This family has three children, two of whom were affected. One son, the proband, had bilateral and one daughter had unilateral WT. The first child, the father, and the mother did not have WT. The son with bilateral WT had a ring chromosome (R) both in the lymphocytes as well as in the kidney tissue. The size of the ring varied considerably from cell to cell. The daughter with unilateral WT had an abnormal clone containing a small chromosomal ring (r) in phytohemagglutinin (PHA)-stimulated and Epstein-Barr virus (EBV)-transformed lymphocytes. The mother had a karyotype similar to that of the daughter with WT. We hypothesize that the proband's ring chromosome could be the amplified form of the r inherited from the mother. Chromosome 11 was cytogenetically normal in all the cells examined of the affected children and the unaffected mother. In situ hybridization with a centromere-specific DNA cocktail indicated dispersed centromeric DNA both in r and R.     

Impact of social mobility and geographical migration on variation in male height, weight and body mass index in a British cohort

Using a sample of 2090 British father and son pairs the relationships between social and geographical intra- and inter-generational mobility were examined in relation to height, weight and body mass index (BMI). There was much more social mobility than geographical (regional) migration. Social mobility and geographical migration were not independent: socially non-mobile fathers and sons were more likely to be geographical non-migrants, and upwardly socially mobile fathers and sons were more likely to be regional migrants. Upwardly socially mobile fathers and sons were, on average, taller and had a lower BMI than non-mobile and downwardly mobile fathers and sons. In general, no significant associations were found between geographical migration and height or weight. Migrating fathers had a lower BMI than sedentes, as did their sons who migrated between 1965 and 1991. There was no significant interaction that indicated that social mobility and geographical migration were acting in a simple additive way on height, weight and BMI.     

Expression of folate-sensitive fragile sites in lymphocyte chromosomes

Summary The expression of folate-sensitive fragile sites (FS) was analyzed using MTX as a fragility inducer in seven normal subjects [four unrelated persons and three members of one family (father, mother, and son)]; a woman heterozygous for fra Xq27.3 with a 47,XXX karyotype; and her son, affected by the fra-X syndrome. The mean expression of chromosome lesions (CL) other than Xq27.3 was 70.1% (686CL in 978 metaphases), and the coincidence between CL and FS was 68.9%. We propose six new c-fra sites: bands 4q33 and 11q22 because they were found in two members of the same family; band 13q32 because it had a frequency of expression of 3% of metaphases; and bands 3p13, 8q21, and Xq21 because they were observed in four of the nine individuals studied.     

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected

Complex chromosomal rearrangements (CCRs) are usually associated with infertility or subfertility in male carriers. If fertility is maintained, there is a high risk of abnormal pregnancy outcome. Few male carriers have been identified by children presenting with mental retardation/congenital malformations (MR/CM) or by spontaneous abortions of the spouses. We report a de novo CCR with five breakpoints involving chromosomes 4, 10 and 14 in a male carrier who was ascertained through a son presenting with MR/CM due to an unbalanced karyotype with partial trisomy 14 and partial monosomy 4. The child has a healthy elder brother. In the family history no abortions were reported. No fertility treatment was necessary. Cytogenetic analysis from the affected son showed a reciprocal translocation t(4;10) with additional chromosomal material inserted between the translocation junctions in the derivative chromosome 10. The father showed the same derivative chromosome 10 but had additionally one aberrant chromosome 14. Further molecular cytogenetic analyses determined the inserted material in the aberrant chromosome 10 as derived from chromosome 14 and revealed a small translocation with material of chromosome 4 inserted into the derivative chromosome 14. Thus the phenotype of the son is supposed to be associated with a partial duplication 14q13-->q24.1 and a partial monosomy 4q27-->q28. Including our case we are aware of eleven CCR cases with fertile male carriers. In eight of these families normal offspring have been reported. We propose that exceptional CCRs in fertile male carriers might form comparatively simple pachytene configurations increasing the chance of healthy offspring.     

“de novo” trisomy 1q32→1qter and monosomy 3p25→3pter

Summary The syndrome of familial lymphedema (type Meige) with distichiasis was observed in father and son. The association with uvula bifida and submucous cleft of the palate is described for the first time.     

Intergenerational and Sibling Conflict Under Patrilocality

Here we argue that models developed to examine cooperation and conflict in communal breeders, using a “tug-of-war” model of reproductive skew generated by incomplete control, are an appropriate way to model human kinship systems. We apply such models to understand the patterns of effort put into competition between father and son and between brothers in conflict over family resources in a patrilineal kinship system. Co-resident kin do not necessarily emerge with equal shares of the cake in terms of reproductive output. The models show that, depending on the efficiency with which they can gain more control of the resource, on the marriage system, and on the relatedness of the partners in conflict, individuals can do better to help their relatives breed rather than fight each other for the resources needed to reproduce. The models show that when a son’s father is still breeding with his mother, sons should not compete for any share of reproduction. However, under polygyny, increased effort is spent on father/son and brother/brother conflict. Fathers will win the majority of reproduction if dominant to sons (in contrast to the finding that daughters-in-law win in conflict over mothers-in-law in patrilocal kinship systems, which has been suggested as explaining the evolution of menopause). Hence who wins in the sharing of reproduction depends not just on which sex disperses but also on the relative competitive ability of all individuals to exploit family resources. Anthropologists have long argued that cultural norms can reduce conflict. These formal evolutionary models help us to quantify the effects of reproductive conflict in families, throwing light on the evolutionary basis not just of patterns of reproductive scheduling, but also human kinship and marriage systems.     

Hypertension,Increased Aldosterone Secretion and Low Plasma Renin Activity Relieved by Dexamethasone

A father and son are described with a condition characterized by benign hypertension, potassium deficiency, increased aldosterone secretion rate (ASR), raised plasma volume and suppressed plasma renin activity (PRA). There were intermittent elevations of urine 17-ketosteroids and 17-hydroxycorticoids (17-OHCS) but no increase in urine THS, normal circadian rhythm of plasma 17-OHCS, and normal urine 17-OHCS response to dexamethasone and intravenous ACTH. Plasma ACTH and corticosterone secretion were not elevated. Pregnanetriol excretion was normal but urine pregnanediol was increased. At operation on the father no adrenal tumour was found; the excised left adrenal weighed 7 g. and showed nodular cortical hyperplasia; juxtaglomerular cells showed only occasional granules. Following operation hypertension persisted and ASR was half the preoperative value. All abnormalities in father and son were relieved by dexamethasone (DM) 2 mg. daily. The condition recurred following cessation of DM but was relieved by a second course of treatment. No such response to DM was seen in a normal subject or in a patient with Conn''s syndrome. For a number of reasons it is suggested that patients with hypertension, increased ASR and low PRA be given a trial of dexamethasone treatment before undergoing adrenal surgery.     

子代身高性别对父母身高的回归分析

对抽样调查的身高数据进行计量分析,建立了子代对亲代身高的回归分析模型,揭示了子代身高与亲代身高的遗传率;研究结果表明,父母身高对下一代的遗传率强度不同,母亲要强于父亲;子女接受遗传的效应也不一样,女儿要强于儿子;建立了性别遗传模型,深入研究了亲代父母之间的身高差对子代性别的影响,亲代身高差越大,则生女孩的几率就越大,反之生男孩的几率就越大．