海南省鼻咽癌三个高发家系报告

本文调查了鼻咽癌聚集的10个家系。在3个高发家族中,家系1两代11人中有4 人患鼻咽癌;家系2同代6人中有3人患鼻咽癌;家系3同胞5人中有3人患鼻咽癌。我们从肿瘤流行病学、病理类型及其血缘关系作了分析,认为鼻咽癌具有垂直和水平的家族发生 倾向,支持鼻咽癌有遗传倾向的看法。 Abstract:We studied the genealogy with nasopharyngeal carcinoma(NPC)and found 25 patients (18 males,7 females)with NPC in 10 families,aged from 13 to 60.The bron of the same parents were 12 patients,accounting for 48% among these patients.Both male and female patients were found in five families;the patients in four families were all male;there were all female patients in the only one family;At the sametime,21 patients with NPC were the first kinsfolk in 8 families,accounting for 84%.Besides,we looked into 3 families with high incidence;there were 4 out of 11 family members suffering from NPC in the first genealogy in 2 generations;3 of 6 brons of the same parents were ill with NPC in the third genealogy.Based on the studies of cancer epidemiology,pathology and genealogy,our results suggested that the family incidence of NPC had vertical and horizontal thndency,and that genetic factors played a decisive role in NPC incidence.     

遗传多代的13/21罗伯逊易位家系的调查研究

一个13/21染色体罗伯逊易位家系中, 易位染色体携带者4人,易位型先天愚 型患者3人,易位染色体至少已经遗传了4代。该家系中有同性双生子的聚集现象。讨论 了罗伯逊易位的遗传机理。 Abstract:A pedigree with 13/21 robertsonian translocation was reported.There were four carriers and three patients with Downs syndrome in the padigree.The Robertsonian chromosome translocation had been transmitted at leart for four generations.A family aggregation of monozygotic twines was found in this pedigree too.The inheritance principle of robertsonian translocation was discussed and that the origin of monozygotic twins may be genetically involved were considered.     

Genomic variation in the hybrids of white crucian carp and red crucian carp: evidence from ribosomal DNA

In this study, we conducted a cross of white crucian carp(♀)×red crucian carp(♂)(WR), and characterized the morphology, reproduction and genetics of the progeny. Different from parents, WR with the gray color showed the hybrid morphological traits of both parents. WR possessed normal gonads producing mature eggs or sperm, and exhibited high fertilization rate(90.2%) and high hatchery rate(80.5%), which contributed to produce and enlarge the population. WR with the same DNA content as parents was a diploid fish with 100 chromosomes(2n=100). Amplified ITS of 45 S r DNA, in WR the sequences consisting of 884 bp bases of the entire ITS-1 region, 5.8 S region, and entire ITS-2 region. The sequences showed high similarity between WR and its parents and leaned towards male inheritance. In WR, NTS of 5S r DNA consisted of three length types with total 654 bp bases. From sequence analysis of NTS, WR shared 94.2% and 95.1% similarities with their female and male parent, respectively. Sequence analysis of ITS and NTS revealed that there existed recombination and variation in the hybrid progeny, which was the genetic base for adaptation and speciation. In conclusion, we obtained WR from hybridization and it exhibited hybrid traits in morphology and variation in genetic composition showing essential difference with its parents. The obtainment of WR has important significance in fish genetic breeding.     

X连锁隐性遗传性Marinesco-Sjögren综合征一家系五代11例报告

报告一个Marinesco-Sj?gren综合征(MSS)的大家系.通过家系调查和查体发现MSS患者11例,均为男性,已死亡7例,死亡年龄为15～20岁.患者均具有先天性白内障,智能发育迟滞、小脑性共济失调及骨骼畸形等征候.存活4例还伴有FSH水平增高,LH及T水平降低.结论认为该MSS家系为X连锁隐性遗传。 Abstract:A big family of Marinesco-Sjögren Syndrome with X-Linked recessive inheritance is reported in the paper.We discovered 11 Patients with MSS by family line inheritance and somatoscopy.These Patients were aged from 15 to 20 years old when they died with clinic feature of congenital cataract,mental retardation,cerebellar ataxia and skeleton deformity;4 patients survived,but showed high level of FSH plasme and low level of LH and T.is concluded that this is a MSS family X-Linked recessive inheritance.     

Cloning, mapping and mutation analysis of human gene GJB5 encoding gap junction protein β-5

By homologous EST searching and nested PCR a new human gene GJB5 encoding gap junction protein β-5 was identified. GJB5 was genetically mapped to human chromosome 1p33-p35 by FISH. RT-PCR revealed that it was expressed in skin, placenta and fetal skin. DNA sequencing of GJB5 was carried out in 142 patients with sensorineural hearing impairment and probands of 36 families with genetic diseases, including erythrokeratodermia (5 families), Charcot-Marie-Tooth disease (13), ptosis (4), and retinitis pigmentosa and deafness (14). Two missense mutations (686A→G, H229R; 25C→T, L9F) were detected in two sensorineural hearing impairment families. A heterologous deletion of 18 bp within intron was found in 3 families with heredity hearing impairment, and in one of the 3 families, a missense mutation (R265P) was identified also. But the deletion and missense mutation seemed not segregating with hearing impairment in the family. No abnormal mRNA or mRNA expression was detected in deletion carriers by RT-PCR analysis in skin tissue. Mutation analysis in 199 unaffected individuals revealed that two of them were carriers with the same 18 bp deletion.     

青少年白发的皮纹学研究

本文对203名青少年白发患者的皮纹进行了分析,并与216名正常对照组个体作了比较.发现青少年白发组的As和Wd出现率以及A/A和L/W的对应频率均显著低于正常对照组;青少年白发组女性的a-bTRC值、男性变异型掌褶纹的出现率、10指同斗频率、右手Ⅰ2区及左手Hy区的花纹出现率均显著高于正常对照组的相应出现率.说明青少年白发者的皮纹可能有自身的遗传特征。 Abstract:This paper sought to analyze the dermatoglyph of 203 cases with juvenile poliosis,and make an individual contrast with the control group of 216 normal juveniles.It was found that the incidence of As and Wd in the group of juvenile poliosis and the correspondence rate of A/A and L/W were obviously lower than those of the normal contrast group,while a-b TRC value in the female patients with juvenile poliosis and the incidence of abnormal palmprint in the male, the frequency of all loop whorl,and palm patterns in the I2 area of the right hand and in the Hyarea of the left hand were evidently higher than the corresponding incidences of the normal contrast group.Dermatoglyph of the juvenile poliosis has its own heredity.     

Anatomy and ontogeny of unisexual flowers in dioecious Woonyoungia septentrionalis （Dandy） Law （Magnoliaceae）

Woonyoungia septentrionalis （Dandy） Law is aceae. The floral morphology and structure of the species a dioecious species with unisexual flowers in Magnoliare conspicuously different from other species and are important to the study of floral phylogeny in this family. The floral anatomy and ontogeny were investigated to evaluate the systematic position of W. septentrionalis, using scanning electron microscopy and light microscopy. All of the floral organs are initiated acropetally and spirally. The carpels are of conduplicated type without the differentiation of stigma and style. The degenerated stamens in the female flowers have the same structures as the normal stamens at the earlier developmental stages, but they do not undergo successive development and eventually degenerate. The male floral apex was observed to have the remnants of carpels in a few investigated samples. As the bisexual flower features could be traced both in the male and female flowers in W. septentrionalis, it suggests that the flower sex in Magnoliaceae tends toward unisexual. As well as the unisexual flowers, the reduced tepals and carpels and concrescence of carpels conform to the specialized tendency in Magnoliaceae, which confirms the derived position of W. septentrionalis in this family. As the initiation pattern of floral parts of W. septentrionalis is very similar to other species in this family, it needs further investigation and especially comparison with species in Kmeria to evaluate the separation of Woonyoungia.     

Anatomical and morphological parameters of leaves and leaf petioles of Actinidia deliciosa

Differences in anatomy and morphology of the kiwifruit leaves and leaf petioles might play a considerable role in the sex-determination. Three months after bud break (June), the kiwifruit leaves of both male and female plants, grown on the vegetative and generative shoots showed different leaf area (128.6 ± 13.45 cm2 in male and 104.5 ± 4.02 cm2 in female plants) and shape. The most frequently leaf shape was determined as "folium cordatum" and "folium rotundato-cordatum". Higher values of total leaf thickness of the female leaves (190 ± 3.84 μm) in comparison to male leaves (174 ± 3.52 μm) were estimated, resulting in the thicker adaxial leaf epidermis and especially in thicker palisade parenchyma in female leaves (136 ± 2.76 μm in comparison to 104 ± 1.61 μm in male leaves). Typically bifacial leaves were observed in both male and female leaves. Anomocytic stomata in hypostomatic leaves were found. The reticulate venation appears to be the main type of leaf venation. Stalked stellate multicellular trichomes on the abaxial leaf side were frequently observed in the leaves of both sexes. No important differences between male and female plants were found in the structures of vascular system in leaves and leaf petioles. Thus leaf thickness and surface morphology of adaxial leaf epidermis can be considered as important structural parameters in the sex determination. This revised version was published online in July 2006 with corrections to the Cover Date.     

Study of a single BRCA2 mutation with high carrier frequency in a small population.

Germ-line changes in the cancer-predisposition gene BRCA2 are found in a small proportion of breast cancers. Mutations in the BRCA2 gene have been studied mainly in families with high risk of breast cancer in females, and male breast cancer also has been associated with BRCA2 mutations. The importance of germ-line BRCA2 mutations in individuals without a family history of breast cancer is unknown. The same BRCA2 mutation has been found in 16/21 Icelandic breast cancer families, indicating a founder effect. We determined the frequency of this mutation, 999del5, in 1,182 Icelanders, comprising 520 randomly selected individuals from the population and a series of 632 female breast cancer patients (61.4% of patients diagnosed during the study period) and all male breast cancer patients diagnosed during the past 40 years. We detected the 999del5 germ-line mutation in 0.6% of the population, in 7.7% of female breast cancer patients, and in 40% of males with breast cancer. The mutation was strongly associated with onset of female breast cancer at age <50 years, but its penetrance and expression are varied. A number of cancers other than breast cancer were found to be increased in relatives of mutation carriers, including those with prostate and pancreatic cancer. Furthermore, germ-line BRCA2 mutation can be present without a strong family history of breast cancer. Comparison of the age at onset for mother/daughter pairs with the 999del5 mutation and breast cancer indicates that age at onset is decreasing in the younger generation. Increase in breast cancer incidence and lower age at onset suggest a possible contributing environmental factor.     

Familial interactions of male rhesus monkeys in a semi-free-ranging troop

Although the central and stable position of female rhesus monkeys in semi-free-ranging bands has been observed and described, the position of the developing male in the social group is not as well delineated. The present study is an attempt to describe interactions of 18 males with members of their families. Quantitative observations were made on one band (E) of rhesus monkeys on Cayo Santiago. Incidences of behavior recorded were joining, grooming, and threatening. The resulting data were analyzed by comparing the behavior of the males studied toward members of their genealogy as well as unrelated members of the social group. Behavior of family and non-relatives toward the males was also revealed. Statistical analysis revealed that the male subjects engaged in more positive social interactions within the matrifocal family than with other members of the genealogy, and in turn, more such behavior was observed within the genealogy than with unrelated monkeys. Threatening behavior within the genealogies was infrequent. Age effects were noted in that family members directed more interactions toward younger males and as males matured, they groomed more but joined family members less frequently. These data suggest mechanisms of socialization within the genealogy that may be different from those employed within the unrelated social group.     

Care of young and the effect of the presence of a male on parental behavior in the common vole (Microtus arvalis) in captivity

Care of the young by male and female common voles reared by both parents (complete families) or by females only (incomplete families) has been studied. It has emerged that the absence of an adult male in the common vole family groups, reducing the care of young (first and foremost, tactile stimulation), negatively influences their pair bonds and the subsequent parental behavior of the male offspring.     

美姑大风顶自然保护区种子植物区系分析

四川美姑大风顶国家级自然保护区有种子植物 1 1 8科 ,3 85属 ,860种 ,其中裸子植物 5科 ,1 6属 ,1 9种 ;被子植物 1 1 3科 ,3 69属 ,841种。种子植物属、种的区系成分共有 1 3个类型 ;在所有成分中 ,以温带区系成分为主 ,达 1 81属 ,占总属数的 5 1 .5 8%。中国特有分布属共 1 1属 ,占总属数的 3 .1 3 % ;中国特有分布种共41 0种 ,占总种数的 48.41 %。保护区共有珍稀濒危植物 1 8种 ,其中国家一级保护植物 4种 ,国家二级保护植物 6种 ,国家三级保护植物 8种。     

Human sex ratios and sex distribution in sibships of size 2

We previously analyzed data from the U.S. National Health Interview Survey (NHIS, 1998 to 2002) on families with two biological children (10 years of age and younger) and found that the distribution of families with two boys, two girls, and one boy + one girl did not statistically conform to a binomial distribution regardless of the boy/girl sex ratio used. Using the best estimate of the sex ratio from the data, we found that there were significantly more families with opposite-sex siblings than families with same-sex siblings. No biological mechanism could explain these results at the time. In the present study we conducted an analysis of the first two children in sibships of size 3 from the same data source and found that there are significantly more same-sex sibships than unlike-sex sibships. Combining the two sets of data for the first two children produced observed numbers in close agreement with the expected numbers. A hypothesis of parental choice (family planning) appears to be strongly supported as an explanation for the discrepancies in the two sets of data individually. For example, parents who have a boy and a girl (either order) as their first two children are more likely to stop having children ("stopping rule") than are parents whose first two children are of the same sex.     

Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited neuromuscular disorder affecting facial and shoulder girdle muscles with subsequent progression to the pelvic girdle and lower extremities. The major gene involved has been localized to chromosome 4q35 (FSHD1A). The 4q35 DNA marker p13E-11 (D4F104S1) detects a de novo EcoRI DNA rearrangement of < 30 kb in isolated and familial cases. The intrafamilial size of the fragment is constant, inversely correlated with the severity, and directly correlated with the age of onset of the condition. There has been evidence of parental mosaicism in FSHD1A for the D4F104S1 locus. Four female and three male clinically unaffected parents have been described to be carriers of EcoRI fragments of the same size as their affected offspring, but with a markedly less intensive hybridization signal (semi-quantitative evidence). In our total sample of 42 FSHD1A families, we found semi-quantitative evidence of parental D4F104S1 mosaicism in 11 families (EcoRI fragment size range: 12–27 kb). On analysis with adjacent 4q35 probes (D4S163, D4S139), additional qualitative evidence of germline mosaicism could be obtained in two families. In our mosaic families and in the families reported in the literature, a female predominance of mosaicism carriers (13 females versus 5 males) could be noted. In our sample, mosaicism was observed in multigeneration families, in families with isolated cases, and in families with two and three affected children from seemingly unaffected parents. A short EcoRI fragment once having emerged in a mosaicism carrier was found to be transmitted autosomal dominantly to subsequent generations. Of all reported sporadic patients, 19% have a mosaic parent. Finding evidence of parental mosaicism in all our families with more than one affected child of seemingly unaffected parents suggests that there is no autosomal recessively inherited form of FSHD1A. Received: 5 March 1996 / Revised: 14 May 1996     

Effect of family history of cancers and environmental factors on risk of nasopharyngeal carcinoma in Guangdong,China

Background: Family history of nasopharyngeal carcinoma (NPC) is an established risk factor for this cancer, but the contributions of family history of other types of cancer and its interaction with environmental factors have not been well characterized. Methods: A total of 1845 incident cases of NPC and 2275 matched controls from Guangdong, China were included in this study. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from logistic regression models adjusted for smoking, consumption of alcohol, salted fish consumption, and demographic factors. Results: A significant association between the risk of NPC and family history of any cancers in first degree relatives was observed, and higher number of affected family member was related to a higher risk (P_trend < 0.01). Family history of NPC was the strongest predictor for NPC (OR: 3.35, 95% CI: 2.46–4.55 for all first degree relatives). The risk of NPC was also positively associated with history of head and neck cancer among parents and lung and breast cancers among siblings. The combination of family history of cancer, especially NPC, and the consumption of salt-preserved fish significantly increased the risk for NPC. Conclusions: These results confirm that the risk for NPC increases with family history of NPC and suggest that lung and breast cancer contribute to risk for NPC. A possible interaction between family history of cancer, especially NPC, and consumption of salt-preserved fish in the development of NPC was also identified.     

Linkage maps of microsatellite DNA markers for the Pacific oyster Crassostrea gigas

We constructed male and female consensus linkage maps for the Pacific oyster Crassostrea gigas, using a total of 102 microsatellite DNA markers typed in 11-day-old larvae from three families. We identified 11 and 12 linkage groups in the male and female consensus maps, respectively. Alignment of these separate maps, however, suggests 10 linkage groups, which agrees with the haploid chromosome number. The male linkage map comprises 88 loci and spans 616.1 cM, while the female map comprises 86 loci and spans 770.5 cM. The male and the female maps share 74 loci; 2 markers remain unlinked. The estimated coverages for the consensus linkage maps are 79% for the male and 70-75% for the female, on the basis of two estimates of genome length. Ninety-five percent of the genome is expected to lie within 16 and 21 cM of markers on the male and female maps, respectively, while 95% of simulated minimum distances to the male and female maps are within 10.1 and 13.6 cM, respectively. Females have significantly more recombination than males, across 118 pairs of linked markers in common to the parents of the three families. Significant differences in recombination and orders of markers are also evident among same-sex parents of different families as well as sibling parents of opposite sex. These observations suggest that polymorphism for chromosomal rearrangements may exist in natural populations, which could have profound implications for interpreting the evolutionary genetics of the oyster. These are the first linkage maps for a bivalve mollusc that use microsatellite DNA markers, which should enable them to be transferred to other families and to be useful for further genetic analyses such as QTL mapping.     

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Kohlschütter-Tönz syndrome is a rare genetic disorder with neurologic symptoms – epilepsy and severe developmental delay – and defective enamel leading to yellow or brownish discoloration of teeth. The first family was described in 1974, all affected patients were male. In the meantime, families with both male and female patients were identified as well. Inheritance is thus most probably autosomal recessive; genetic heterogeneity can however not be ruled out. Clinical course and disease severity may differ even within one family. As the genetic basis has not yet been elucidated, diagnosis must be made on clinical grounds. We report three new children with Kohlschütter-Tönz syndrome in comparison to the 21 hitherto published cases.