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[Structure of the gene pool of eastern Ukrainians from Y-chromosome haplogroups].

Y chromosomes from representative sample of Eastern Ukrainians (94 individuals) were analyzed for composition and frequencies of haplogroups, defined by 11 biallelic loci located in non-recombining part of the chromosome (SRY1532, YAP, 92R7, DYF155S2, 12f2, Tat, M9, M17, M25, M89, and M56). In the Ukrainian gene, pool six haplogroups were revealed: E, F (including G and I), J, N3, P, and R1a1. These haplogroups were earlier detected in a study of Y-chromosome diversity on the territory of Europe as a whole. The major haplogroup in the Ukrainian gene pool, haplogroup R1a1 (earlier designated HG3), accounted for about 44% of all Y chromosomes in the sample examined. This haplogroup is thought to mark the migration patterns of the early Indo-Europeans and is associated with the distribution of the Kurgan archaeological culture. The second major haplogroup is haplogroup F (21.3%), which is a combination of the lineages differing by the time of appearance. Haplogroup P found with the frequency of 9.6%, represents the genetic contribution of the population originating from the ancient autochthonous population of Europe. Haplogroups J and E (11.7 and 4.2%, respectively) mark the migration patterns of the Middle-Eastern agriculturists during the Neolithic. The presence of the N3 lineage (9.6%) is likely explained by a contribution of the assimilated Finno-Ugric tribes. The data on the composition and frequencies of Y-chromosome haplogroups in the sample studied substantially supplement the existing picture of the male lineage distribution in the Eastern Slav population.

Base Sequence↗

[Polymorphic analysis of DYS287 and DYS440 in She ethnic in Zhejiang province China].

OBJECTIVE: To study the polymorphisms of DYS287 and DYS440 in Zhejiang She population. METHODS: Detection of DYS287 and DYS440 polymorphisms was performed in 100 She individuals by using polymerase chain reaction amplification and 2% agarose gel electrophoresis. RESULTS: With 150 bp product in all She individuals, YAP(+) was absent. DYS440*3 was present in 10 She individuals (10%); DYS440*4 was present in the other 90 She individuals(90%). CONCLUSION: The polymorphisms of DYS287 and DYS440 in Zhejiang She population were different from those in the other populations that belong to Sino-Tibetan Language Family. So both DYS440 and DYS287 are important and stable genetic markers, they can provide reliable evidence in human evolution study.

China↗

[Genetic analysis of 17 biallelic markers on Y chromosome in 3 Chinese ethnic group populations].

OBJECTIVE: To study the genetic polymorphism of Y chromosome in different Chinese ethnic group populations. METHODS: Genotypes of 17 biallelic markers located in the nonrecombining portion of the Y chromosome in 76 men from 3 Chinese ethnic group populations (Han in Shandong, Bai in Yunnan, and Tu in Qinghai) were examined with polymerase chain reaction (PCR) and allelic-specific PCR (ASPCR). Their haplotypes made of these 17 binary markers were constructed. The principle component (PC) analysis was conducted based on the haplotype frequency distribution among these 3 and other 15 published Chinese ethnic group populations. RESULTS: The diversities of M50, M110, M103, M88, M3, and M7 were not found in these 3 populations. The frequencies of YAP+ were 23.8%, 6.7%, and 4% respectively in Tu, Bai, and Shandong Han. Eleven haplotypes were found in 3 populations--7 haplotypes (H1, H3, H5, H6, H8, H9, and H11) in Shandong Han (Han.SD), 8 haplotypes (H1, H2, H3, H5, H6, H8, H11, and H16) in Tu, and 9 haplotypes (H1, H3, H4, H5, H6, H8, H9, H11, and H13) in Bai. The predominant haplotypes were H1, H3, H5, H6, H8, and H11. According to PC analysis, Bai was close to Northern Han; Shandong Han, Southern Han (Han.S), Bai and Yunnan Tibetan clustered together; and Tu was close to Yi, Hui and Manchurian. CONCLUSIONS: Shandong Han may have had genetic exchanges with southern populations in China. It has been confirmed that some gene components of Han had flowed into Bai's gene pool. Gene flowed from Central Asia had impacted Chinese western populations.

Alleles↗

[Polymorphism analysis for DYS19 and DYS287 of three Li populations in Haina Island, China].

The distribution of Y-chromosome specific microsatellite DYS19, in 289 males of three ethnic populations in Hainan Island was studied with the method of PCR followed by denatured polyacrylamide gel electrophoresis and silver staining. The three ethnic populations are Bendi Li, Qi Li and Ha Li. The results showed that four alleles (190bp, 194bp, 198bp, 202bp designated as alleles B, C, D and E respectively), were observed in DYS19, the frequency ranged from 0.660-0.854, and was predominant in three Li subgroups. The pairwise comparison with Fisher's Exact test reveals that there exists significant difference (P<0.01) in DYS19 phenotype distribution between Qi Li and Ha Li populations. The polymorphism of the Y-chromosome specific Alu insert sequence DYS287 was investigated also in three Li populations. The results demonstrated that with 150 bp product in all Bendi-Li, Qi-li and Ha-li, YAP element is absent. The preliminary study provides reference populations for detecting male migration events and for reconstructing paternal history.

English Abstract↗

[The distribution of Y-chromosome haplotypes of Shui ethnic in Sandu,Guizhou].

Non-recombination region of Y-chromosome is a useful marker in tracing evolutionary history of paternal lineage. In the present study, total 92 individuals from Shui ethnic group in Sandu Shui Ethnic Group Autonomous County of Guizhou Province were inspected with 11 SNP sites including M7, M9, M15, M45, M89, M95, M119,M122, M130, M134 and YAP on Y-chromosome.All the subjects were required to be unrelated and without intermarriage with other ethnic groups within three generations. The haplotypes were analyzed by PCR-RFLP method. Four haplotypes H5,H8,H9 and H11 were detected with frequencies of 0.054, 0.044, 0.315 and 0.587, respectively.Principle component indicated that the paternal lineage of Shui ethnic group is much closer to Li ethnic group of Hainan Province and Bouyei ethnic group of Guizhou Province,which belong to the group of Zhuang-Dong branch of Sino-Tibetan language family. In addition genetic study of Shui coincides with its linguistic distribution.

English Abstract↗

[Frequencies of Y chromosome binary haplogroups in Belarussians].

The compositions and frequencies of Y-chromosome haplogroups identified by genotyping 23 biallelic loci of its nonrecombining region (YAP, 92R7, DYF155S2, 12f2, Tat, M9, M17, M25, M89, M124, M130, M170, M172, M174, M173, M178, M201, M207, M242, M269, P21, P25, and P37) have been determined in a sample of 68 Belarussians. Eleven haplogroups have been found in the Belarussian gene pool (E, F*, G, I, I1b, J2, N3a*, Q*, R1*, R1a1, and R1b3). Haplogroup R1a1 is the most frequent; it includes 46% of all Y chromosomes in this sample. The frequencies of haplogroups I1b and I are 17.6 and 7.3%, respectively. Haplogroup N3a* is the next in frequency. The frequencies of haplogroups E, J2, and R1b3 are 4.4% each; that of R1* is 3%; and those of F*, G, and Q* are 1.5% each.

Chromosomes, Human, Y↗

Cancer in the US Associated Pacific Islands (UASPI): history and participatory development.

The US-associated Pacific Island jurisdictions (USAPI) have great disparities in health care and comprehensive cancer care compared to the United States. Cancer mortality ranks first or second among the leading causes of death in most of these island nations. The USAPI has formed the Cancer Council of the Pacific Islands (CCPI), an indigenous council to identify and address the cancer health disparities of the region. The CCPI efforts were formally launched in 2002 with the support of the Center to Reduce Cancer Health Disparities, a Center of the National Cancer Institute (CRCHD-NCI) and the National Center for Minority Health Disparities, a Center of the National Institutes of Health (NCMHD-NIH). Facilitating partners are the Department of Family Medicine and Community Health, University of Hawai'i and 'Imi Hale - Native Hawaiian Cancer Network, a program of Papa Ola Lokahi. The objectives of this initiative are to describe and address the cancer health disparities in the USAPI. Over the past 2 years there has been considerable progress in identifying and prioritizing cancer prevention and control needs; launching cancer prevention and control efforts in each of the jurisdictions; and leveraging additional funding to support ongoing activities. The support from the Center to Reduce Cancer Health Disparities in fostering a participatory model of development has been landmark in the establishment and implementation of this initiative. This manuscript provides a historical background on cancer in the USAPI and prefaces 9 cancer assessments in this journal from the Commonwealth of the Northern Mariana Islands, Guam, American Samoa, Republic of the Marshall Islands, Republic of Belau, and the four states (Yap, Pohnpei, Kosrae and Chuuk) of the Federated States of Micronesia.

Attitude to Health↗

Cancer in Micronesia.

Between November 1998 and December 1999, trained medical record abstractors visited the Micronesian jurisdictions of Chuuk, Kosrae, Pohnpei, and Yap (the four states of the Federated States of Micronesia), as well as the Republic of Palau (Belau), the Republic of Kiribati, the Republic of the Marshall Islands (RMI), and the Republic of Nauru to review all available medical records in order to describe the epidemiology of cancer in Micronesia. Annualized age-adjusted, site-specific cancer period prevalence rates for individual jurisdictions were calculated. Site-specific cancer occurrence in Micronesia follows a pattern characteristic of developing nations. At the same time, cancers associated with developed countries are also impacting these populations. Recommended are jurisdiction-specific plans that outline the steps and resources needed to establish or improve local cancer registries; expand cancer awareness and screening activities; and improve diagnostic and treatment capacity.

Developing Countries↗

[A cytogenetic study of the human chorion for the purpose of the prenatal diagnosis of hereditary diseases].

Cytogenetical investigation of 50 diagnostic chorionic villus samples from women with a high risk of giving birth to babies with chromosomal and genic pathology, and of 128 chorionic samples obtained from medical abortions, both on the 8-12th weeks of gestation was performed by means of original direct chromosomal analysis. Chromosomal anomalies were found in 6 cases of diagnostic chorion biopsies (12%) and in 4 cases (3%) of medical abortions. The former group included 5 embryos with autosomal trisomy (4--Ts21 and 1--Ts13) and one embryo with monosomy 18. The latter group contained 2 embryos with X-chromosome monosomy and 2 other with chromosomal mosaicism. A significant prevalence of the female sex was found in the diagnostic group (sex ratio 0.56), but not in the medical abortion one (sex ratio 1.0). Analysis of routine chromosomal preparations and those after in situ hybridization with X-chromosome alfoid-probe YAP 1-10 revealed polyploidy in average in 0.8-1% chorion cells. The feasible causes of sex ratio distortion in embryos of diagnostic group and factors responsible for the rate of polyploidy are discussed. High reliability of originally elaborated direct "shaking-blotting" method of chromosomal preparations from chorionic villus samples is stressed.

Abortion, Induced↗

A functional protein kinase C is required for induction of 2-5A synthetase by recombinant interferon-alpha A in Daudi cells.

Treatment of Daudi B lymphoblastoid cells with interferon (IFN)-alpha or -beta has been reported (Yap, W. H., Teo, T. S., and Tan, Y. H. (1986) Science 234, 355-358) to cause a transient increase in the level of diacylglycerol, which is the endogenous activator of protein kinase C (PK-C). To assess the role for PK-C in the induction of 2-5A synthetase mRNA and activity by IFN-alpha in Daudi cells, we have examined the effects of PK-C inhibitors and activators. We have found that the PK-C inhibitor, 1-(5-isoquinolinylsulfonyl)-2-methylpiperazine (H7), strongly inhibits the induction of 2-5A synthetase mRNA and activity by recombinant IFN-alpha A (rIFN-alpha A) and that this inhibition appears to be at a post-transcriptional level. The inhibition by H7 could not be attributed to a generalized decrease in macromolecular synthesis or to inhibition of the binding or internalization of rIFN-alpha A. Moreover, pretreatment of Daudi cells for 24 h with phorbol esters to down-regulate or desensitize PK-C substantially inhibited the subsequent induction of 2-5A synthetase mRNA and activity by rIFN-alpha A. These data suggest that PK-C activity is required for the induction of 2-5A synthetase by rIFN-alpha A. However, phorbol esters, which are potent PK-C activators, did not induce 2-5A synthetase. Taken together, our data indicate that a functional PK-C is required for 2-5A synthetase induction by rIFN-alpha A at a post-transcriptional level in Daudi cells but that activation of PK-C is not sufficient for induction of this enzyme.

1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine↗

[Stewart-Treves syndrome of the edematous arm following breast cancer operation].

In 1948, Stewart and Treves (158) described a lymphangiosarcoma on the edematous arm for the first time with reference to six cases involving arm edema after breast cancer operation. Since their publication, a further 313 cases have become known. In 1982, with communication of one case we published a statistical compilation comprising of 248 cases (Zeitschrift für Lymphologie VI, 1982, 51-66). A statistical compilation totalling 290 observations is now presented on the basis of further studies of the older literature supplemented by observations of the last six years including two of our own cases. So far, a total of 319 single observations has become known: 21 cases of Yap et al. (182), eight cases of Oshmianskaia et al. (123) and 290 cases in the statistical compilation we have drawn up and which is the basis of this publication. By histological investigation of the tissue material taken from a female patient within six weeks (exploratory excision, radical excision), detailed information could be obtained on the histological development of the Stewart-Treves-Syndrome (STS) from a preneoplasia to a mature lymphangiosarcoma. The second female patient is a relatively rare observation of an STS of fulminant course which remained restricted to the extremity, chest wall and neighboring parts of the back during the entire course.

Aged↗

Is schizophrenia rare if grain is rare?

If, as hypothesized, neuroactive peptides from grain glutens are the major agents evoking schizophrenia in those with the genotype(s), it should be rare if grain is rare. To test this, we analyzed the results of our clinical examinations (e.g., kuru) and observations of anthropologists on peoples consuming little or no grain. Only two overtly insane chronic schizophrenics were found among over 65,000 examined or closely observed adults in remote regions of Papua New Guinea (PNG, 1950-1967) and Malaita , Solomon Islands (1980-1981), and on Yap , Micronesia (1947-1948). In preneuroleptic Europe over 130 would have been expected. When these peoples became partially westernized and consumed wheat, barley beer, and rice, the prevalence reached European levels. Our findings agree with previous epidemiologic and experimental results indicating that grain glutens are harmful to schizophrenics.

Adolescent↗

Single tube gamma camera for scintimammography.

The development of large area Position Sensitive Photo Multiplier Tubes (PSPMT) by Hamamatsu is opening new imaging possibilities in Nuclear Medicine. In particular the realization of the 8" PSPMT prototype represents the first important technological advantage since the discovery of the Anger Camera. PSPMT virtually integrates in one hundreds PMT allowing the creation of dedicated detectors. A Single Tube Gamma Camera based on a 5" PSPMT dedicated to scintimammography is presented and discussed in this work. To optimize gamma camera response two different scintillating arrays were tested: YAP:Ce and CsI (Tl). Their overall size cover all photocathode active area, and crystal pixel size was 2 mm x 2 mm. The detection efficiency was comparable to that of Anger Camera. The best result was obtained by CsI (Tl) scintillating: an intrinsic spatial resolution of 1.6 mm FWHM and a relative energy resolution of 17% FWHM. New image possibilities in scintimammography are offered by Single Tube Gamma Camera operating in the same radiological projection of RX mammography.

Breast Neoplasms↗

Choledochoscopy as a complementary procedure to operative cholangiography in biliary surgery.

Six years' experience with the use of the flexible choledochoscope for biliary is reported. One hundred forty-nine patients underwent common bile duct exploration with choledochoscopy as a complementary procedure. Choledochoscopy immediately showed the absence of stones in 37 patients in whom stones were suspected but the results of preexploratory operative cholangiography were negative or equivocal. The remaining 112 patients underwent choledocholithotomy with choledochoscopy. Only two patients (1.3 percent) returned with unsuspected residual stones. Choledochoscopy used as a complementary procedure to operative cholangiography can easily and more accurately clarify suspicious findings in the operative cholangiogram. It avoids the use of blind instrumental exploration of the bile ducts. Impacted stones can be extracted easily under direct vision with the choledochoscope. We believe that the use of choledochoscopy contributed to our low incidence of retained stones.

Aged↗

Surgical management of gastric carcinoma. Follow-up results in 465 consecutive cases.

A retrospective study was made of a consecutive series of 465 patients with histologically proven gastric carcinoma operated on from December 1950 to December 1974. There were 352 men and 113 women, for a male-female ratio of 3.1 to 1. The peak age of incidence was 51 to 55 years. Noncurative surgical procedures were performed in 49.5 percent with no 5 year survivors; 50.5 percent had curative gastric resection. The ulcerating type was the most common lesion, and the pylorus and antrum were the most common primary sites of tumor. Applying the TNM pathologic stage grouping, the study revealed that 3.4 percent of the patients with curative resections were in stage I, 25.5 percent were in stage II and 71 percent in stage III. The 5 year survival rate was 100 percent for stage I, 70 percent for stage II and 20 percent for stage III. Eighty-four patients or 35.7 percent of those with curative gastric resection survived 5 years or longer. The operative mortality was 3.5 percent for the group with noncurative surgical procedures and 2.1 percent for the group with curative gastric resections, giving an overall operative mortality of 2.8 percent for the entire series.

Adult↗

Meningeal carcinomatosis in breast cancer.

Twenty-five breast cancer patients with meningeal carcinomatosis seen over a period of 16 months were reviewed. In all cases, the clinical diagnosis was made in the presence of diverse neurological manifestations by the demonstration of malignant cells in the cerebrospinal fluid. In ten patients, the clinical diagnosis was documented at autopsy. All patients were receiving systemic chemotherapy at the time the diagnosis of meningeal carcinomatosis was made. In 9 of the 25 patients, meningeal involvement was associated with progression of systemic metastases, while 5 exhibited stable or partial remission from systemic metastases and 7 were in complete remission at the time of their CNS relapse. CNS involvement was the first manifestation of recurrent disease from breast cancer in 4 of 25 patients. Meningeal involvement can, therefore, occur at any time during the course of breast cancer. With increasing diagnostic awareness and the employment of several therapeutic strategies, the prognosis of these patients, though poor, was significantly improved over that of historical control patients.

Adult↗

Chemotherapy for postmastectomy lymphangiosarcoma.

Twenty-two patients with postmastectomy lymphangiosarcoma have been seen at M. D. Anderson Hospital during the past 20 years. Of these, 13 received chemotherapy, either regionally, systemically, or both. Six patients were treated with regional chemotherapy using either methotrexate alone, a combination of melphalan, nitrogen mustard, and actinomycin D, or a combination of melphalan with nitrogen mustard or actinomycin D; 3 achieved a partial or complete response. Eleven patients received 19 trials of systemic chemotherapy; one complete and seven partial responses were observed, giving an overall response rate of 42% (8/19). Responses occurred with 5-fluorouracil, methotrexate, a combination of vincristine, actinomycin D, and cyclophosphamide, and a combination of Adriamycin and dacarbazine with or without vincristine. The median survival time of the six patients who responded to at least one chemotherapeutic trial was 26.5 months compared with four months for the five patients who failed to respond. These data indicate that chemotherapy may play a significant role in the treatment of patients with this rare but distinctive tumor.

Adult↗

Treatment for meningeal carcinomatosis in breast cancer.

Forty breast cancer patients with meningeal carcinomatosis were treated with a combined program of whole brain irradiation therapy with intrathecal and intraventricular methotrexate and citrovorum factor rescue. Responses were seen in 26 patients (65%); 13 patients (35%) failed to respond. The median survival time for the responding patients was six months, and for the nonresponders, one month. Factors affecting response and survival included pretreatment spinal fluid glucose, protein, and duration of CNS-related symptomatology prior to onset of therapy. In contrast, pretreatment CSF tumor cell count, CEA and initial CNS functional status did not appear to have prognostic significance. The authors conclude that following intensive therapy there can be much improvement in the quality of life and disease-free survival in breast cancer patients with meningeal carcinomatosis.

Brain↗