Screening of the makers of chromosome 12 and evaluate the applicability of Beijing local standard DB11/T828.3-2011 / 中国比较医学杂志

Objective To screen the markers of chromosome 12, which is vacant in the Beijing local standard DB11/T828.3-2011 for genetic quality control of miniature pigs in Beijing, and to study the applicability of the local standard by comparison of two different methods for evaluation of the genetic quality of the same population.Methods According to the literature, we selected four pairs of microsatellite markers of chromosome 12 and studied the polymorphism through monitoring the genetic quality of two populations of China Agricultural University miniature pigs.We screened the highly polymorphic markers of chromosome 12, combined them with the microsatellite primers of the standard 18 pairs of chromosomes to establish the whole chromosome method.We compared and analyzed the applicability of the local standard DB11/T828.3-2011 through monitoring the genetic quality of the same population of miniature pigs with different method.The data were processed and analyzed using software Popgen32.Results All the screened four pairs of microsatellite markers of chromosome 12 were highly polymorphic (PIC>0.5).The local standard showed a chromosome coverage of 94.7%, stability of amplification of 96.0%, and certified that the China Agricultural University miniature pig III was qualified, while the China Agricultural University miniature pig I was not qualified.When the markers of chromosome 12 were added, the whole chromosome method showed result of 100% chromosome coverage and 96.6% amplification stability, both of the two populations of pigs were certified as qualified.Conclusions The four screened markers of chromosome 12 are all highly polymorphic, and provide a support for supplement of the local standard DB11/T828.3-2011.

Diagnostic value of immunohistochemistry and FISH for chromosome 12p in type Ⅱ testicular germ cell tumors / 中华男科学杂志

<p><b>Objective</b>To study the pathological morphology, immunohistochemical characteristics, and molecular changes of type Ⅱ testicular germ cell tumors (TGCT) and investigate the possible value of immunohistochemistry and fluorescence in situ hybridization (FISH) in the diagnosis of TGCT.</p><p><b>METHODS</b>We collected for this study 97 cases of TGCT, including 75 cases of seminoma, 17 cases of embryonal carcinoma, 11 cases of yolk sac tumor, 16 cases of mature teratoma, 3 cases of immature teratoma, and 1 case of epidermoid cyst, in which normal testicular tissue was found in 20 and non-TGCT in 6. We detected the expressions of different antibodies in various subtypes of TGCT by immunohistochemistry and determined the rate of chromosome 12p abnormality using FISH.</p><p><b>RESULTS</b>The immunophenotypes varied with different subtypes of TGCT. SALL4 and PLAP exhibited high sensitivity in all histological subtypes. CD117 and OCT4 showed strongly positive expressions in invasive seminoma and germ cell neoplasia in situ (GCNIS) but not in normal seminiferous tubules. GPC3 was significantly expressed in the yolk sac tumor, superior to GATA3 and AFP in both range and intensity. CKpan, OCT4, and CD30 were extensively expressed in embryonal carcinoma, while HCG expressed in choriocarcinoma. The positivity rate of isochromosome 12p and 12p amplification in TGCT was 96.7% (29/30).</p><p><b>CONCLUSIONS</b>The majority of TGCT can be diagnosed by histological observation, but immunohistochemical staining is crucial for more accurate subtypes and valuable for selection of individualized treatment options and evaluation of prognosis. Chromosome 12p abnormality is a specific molecular alteration in type Ⅱ TGCT, which is useful for ruling out other lesions.</p>

Genome-wide scan for hypertension linkage to chromosome 12q23.1 - q23.3 in a Chinese family.

Background & objectives: Essential hypertension is a multifactorial disorder with a complex phenotype. Here we report a susceptibility locus for the hypertension mapped by a genome-wide microsatellite scanning in an affected Chinese family, in which 11 members had hypertension before the age of 40. Methods: A total of 22 individuals from a single family from Shanghai, PR China, were genotyped on more than 400 microsatellite markers with a spacing gap of less than 10 cm for nearly the entire scanned genome. Results: Linkage analysis suggested that an affected disorder is linked to a locus in the chromosome interval 12q23.1 to 12q23.3; two-point parametric analysis showed a logarithm of odds (LOD) score of 2.97 for the marker D12S346 (12q23.1) and 1.40 for the marker D12S78 (12q23.3). Fine mapping and haplotype analysis subsequently confirmed that eight continuous markers (D12Sac023161, D12S1706, D12S346, D12S1588, D12S1607, D12Sac010202, D12S78, D12Sac084356) had positive LOD with a maximum two-point LOD score of 3.34 for the marker D12S1706 and a maximum multi-point LOD score was 2.4002 for D12Sac010202, their NPL scores were 10.9091 for D12S1706 and 10.9114 for D12Sac010202. Interpretation & conclusions: A novel locus for essential hypertension was identified on chromosome 12q23.1 - q23.3. This finding implies that the region 12q23.1 to 12q23.3 might encompass a susceptible gene that caused hypertension in this Chinese family.

Study on relativity of genetic variants of rs 12425791 on chromosome 12p13 and prognosis in patients with acute ischemic stroke / 重庆医学

Objective To investigate the association between genetic variants of rs 12425791 on chromosome 12p13 and the one year risk of stroke-related death or recurrent stroke following initial stroke .Methods A total of 401 acute ischemic stroke(AIS) patients who had first-ever ischemic stroke were analyzed .The genotypes of chromosome 12p13 rs12425791 were analyzed by PCR-RFLP .Logistic regression analysis was used to assess the effect of individual genotype on stroke-related mortality or recurrent stroke in one year .Results Among the 401 AIS patients ,31 died or developed a recurrent stroke .After adjustment for age ,sex and vascular risk factors ,logistic regression analysis indicated that the odd ratio were 2 .602(95% CI 1 .216-5 .564) for individuals with homozygous variant allele of rs12425791 .Conclusion This study found that genetic variants of rs12425791 on chromosome 12p13 are independent predictors of stroke-related mortality or stroke recurrence in patients with incident ischemic stroke .

A Case of Addition of Chromosome 12 associated with Multiple Anomaly and Developmental Impairment

Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.

A Case of Paracentric Inversion of Chromosome 12(q13q22)

Paracentric inversion of chromosome 12 is a rare chromosomal aberration, which has familial inheritance in a few cases. We encountered a 2-year-old girl who presented developmental delay, failure to thrive, patent ductus arteriosus, choanal atresia, laryngomalacia, and mild facial dysmorphism. Chromosome studies from peripheral blood showed a 46, XX, inv(12)(q13q22) karyotype. The inversion was also found in her mother. The authors report the first case of paracentric inversion of chromosome 12 in Korea with a review of literature.