ABSTRACT
We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.
ABSTRACT
Objective To study the responsible genes of psoriasis vulgaris on chromosome 1q21 in Chinese Han population.Methods Thirty-six families with psoriasis vulgaris,including 92 patients and 98 normal relatives,aged from 12 to 81 years with an average age at 44 years,were enrolled in this study.Blood samples were obtained from all the participants and subjected to DNA extraction.A genome scan was performed with eight microsatellites distributing over chromosome 1q21-1q23.1.Evidence for linkage disequilibrium was assessed with extended transmission disequilibrium test(ETDT)program and Genehunter software.Results Three short tandem repeat markers were found to be associated with psoriasis vulgaris.With Genehunter,evidence for linkage disequilibrium between D1S2345 and psoriasis was found with the NPL value being 1.735(P=0.0329).Moreover,ETDT revealed that the 97-bp allele of D1S2346 and 283-bp allele of D1S484 were preferentially delivered to affected descendants(P＜0.05).Conclusion Chromosome 1q21 contains genes associated with psoriasis vulgaris in Chinese Han population.
ABSTRACT
BACKGROUND: It is well known that oligodendrogliomas can be divided into two groups according to the 1p/19q or 1p loss of heterozygosity (LOH) status because oligodendrogliomas with the 1p/19q LOH or the 1p LOH have a better prognosis and chemosensitivity. In this study, we investigated the adequate microsatellite markers for 1p/19q LOH of oligodendroglial tumors in Korean patients. METHODS: We performed PCR that was based on the LOH test with the 1p (D1S508, D1S199, D1S2734, D1S186 & D1S312) and 19q (D19S219, D19S112, D19S412 & D19S596) microsatellite markers; these were the markers that were recommended by other researchers. We performed this PCR on microdissected paraffin embedded tissue blocks of 67 tumors from 56 cases. RESULTS: The PCR based LOH analysis revealed that 3 microsatellite markers (D1S508, D1S2734 & D1S186) of 1p and 2 markers (D19S219 & D19S412) of 19q had higher heterozygosity scores than other markers. In addition, chromosomal LOH status using these selective markers showed a statistically significant difference of prognosis for oligodendroglial tumors. CONCLUSIONS: We can suggest that the microsatellite markers with high heterozygosity scores (D1S508, D1S2734, D1S186, D19S219 and D19S412) would be adequate microsatellite markers for a PCR based LOH test of oligodendroglial tumors in Korean patients.