[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].

Objective: To investigate the clinical characteristics and pathogenic basis of a case of 46, XY disorders of sex development (DSD) and analyze the relationship of the missense mutation with the phenotype of the LHCGR gene.

Methods: We analyzed the causative gene mutation by next-generation high-throughput sequencing (HTS) and confirmed it by Sanger sequencing. We detected the effect of the mutation on the splicing function by minigene assay, evaluated its pathogenicity using the ANNOVAR mutation annotation software, and analyzed the relationship of the missense mutation and the phenotype of the LHCGR gene via literature review and data mining.

Maxillary Metastasis of Esophageal Cancer: Report of the First Case and Literature Review.

Background: Esophageal cancer (EC) is a common digestive system tumor, characterized by high invasion, apparent lethality, and poor prognosis. Direct diffusion is the major metastatic mechanism of early EC, whereas advanced EC is spread mainly by lymphatic metastasis, but also can be transferred to the liver, lungs, bones, and so on, by hematogenous metastasis. The incidence of bone metastasis in esophageal cancer is low, and maxillary metastasis of EC is more rare.

A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family.

Background: Chromosome 15q24 microdeletion syndrome is a rare disease. To date, only 40 cases have been reported. Here, we also confirmed a 15q24 microdeletion syndrome in a chorionic villus of miscarriage.

[Two novel TSC2 frameshift mutations in tuberous sclerosis complex].

High-throughput sequencing was performed for the peripheral blood DNA from two probands in the family with tuberous sclerosis complex (TSC) to determine the sequences of TSC-related genes TSC1 and TSC2 and their splicing regions and identify mutation sites. Amplification primers were designed for the mutation sites and polymerase chain reaction and Sanger sequencing were used to verify the sequences of peripheral blood DNA from the probands and their parents. The two probands had c.

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Background: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA.

Methods: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP.

[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].

Williams-Beuren syndrome is a common chromosome microdeletion syndrome. Early diagnosis and treatment are very helpful for patients and their families. This study identified the chromosome karyotype in one fetus with ultrasonography abnormalities and three children with developmental disorders from four families.

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.

Methods: Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study.

[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].

Objective: To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome.

Method: Following conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA.

Human Papillomavirus (HPV) infection in women participating in cervical cancer screening from 2006 to 2010 in Shenzhen City, South China.

Purpose: Human papillomavirus (HPV) infection plays an important role in the development of cervical cancer, but the prevalence of HPV infection in women of Shenzhen city remains unclear. The present study was performed to describe the change of cervical HPV infection in females who participated in voluntary cervical cancer screening from 2006 to 2010 in Shenzhen city, China.

Methods: A total of 4, 413 women were recruited.

[Application of DHPLC screening TGFBR-3 gene in Chinese women with idiopathic premature ovarian failure].

Objective: To evaluate clinical value of denaturing high performance liquid chromatography (DHPLC) used in detecting transforming growth factor beta receptor 3 (TGFBR-3) exons 11 and 12 polymorphism in women with idiopathic premature ovarian failure (POF).

Methods: From Feb. 2009 to Dec.

[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].

Objective: To evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.

Methods: Following conventional chromosome preparation, we performed G- and C-banding karyo. typing and fluorescence in situ hybridization (FISH).

[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization].

Objective: To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause.

Methods: G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization.

Emodin affects ERCC1 expression in breast cancer cells.

Background: Multi-drug resistance to chemotherapeutic agents is a major cause of treatment failure in breast cancer. In this study, we investigated the effects of emodin on reversing the multi-drug resistance, examined the ERCC1 protein expression in breast cancer cell line, and explored the relationship between reversal of multi-drug resistance and ERCC1 protein expression.

Methods: MTT assay was conducted to test the cytotoxicity of adriamycin and cisplatin to MCF-7/Adr cells with and without emodin pretreatment, and Western blot was performed to examine the ERCC1 protein expression.

[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].

Objective: To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques.

Method: G-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother.

FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure.

Background: FOXE1 is one of the candidate genes for genetic predisposition to premature ovarian failure (POF) and it contains an alanine tract. Our purpose is to assess the influence of length of the alanine tract of FOXE1 on genetic susceptibility to POF.

Methods: The group studied consisted of 110 Chinese patients with idiopathic POF and 110 women from normal controls.

[Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].

Objective: To identify potential mutation in the MLC1 gene in a Chinese family affected with megalencephalic leukoencephalopathy and subcortical cysts (MLC), and to provide prenatal diagnosis.

Methods: Genomic DNA of the patients, their parents and younger sister were extracted from peripheral blood. That of the fetus was extracted from an amniotic fluid sample.

[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].

Objective: To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism.

Method: Genomic DNA was isolated from peripheral blood samples of 35 patients with congenital hypothyroidism. All of the 17 exons and flanking introns of TPO gene were amplified by PCR, then the PCR products were sequenced bi-directionally and were analyzed by restriction endonucleases.

Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure.

The aim of this study was to assess the association between human transforming growth factor β receptor, type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chain reaction amplification of DNA fragments from TGFBR3.

[Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion].

Objective: To investigate the relationship between fetal chromosomal karyotype and early spontaneous abortion, and the effect of the environmental factors on spontaneous abortion.

Methods: Choronic villi from 252 cases of missed abortion were sampled as patient group and 50 normal pregnancies as control group. Chorionic villi were cultured and karyotype analysis was performed by G-banding.

[Clinical significance of large-scale screening of A1555G mutation of mitochondria DNA for neonates].

Objective: To explore the necessity of large-scale screening of mitochondria DNA (mtDNA) A1555G mutation for prevention of aminoglycoside antibiotic induced deafness in newborns.

Methods: One thousand blood filter samples were collected from neonates born in July 2008 in Shenzhen. DNA was extracted with Chelex-100 Resin and amplified by PCR.

[Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia].

Objective: To conduct molecular and prenatal diagnosis for a couple with β thalassemia.

Methods: Blood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB.

[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome].

Objective: To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).

Methods: DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.

Results: DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).

[Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification].

Objective: To evaluate the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique used in karyotype analysis of chorionic villi from missed abortion.

Methods: Feb 2008 to Oct 2008, 91 patients with missed abortion diagnosed by hormonal measurement, type B ultrasound and physical exam matched with 20 normal pregnant women undergoing artificial abortion were enrolled in this study. Chorionic villi was obtained by suction dilation and curettage in aseptic condition, then those villi was cultured and analyzed by traditional cytogenetic karyotyping method, in the mean time, the DNA extracted from villi was detected by MLPA.

[Effect of neoadjuvant chemotherapy on ERCC1 gene expression in breast cancer].

Objective: To investigate the expression of ERCC1 gene in breast cancer before and after neo-adjuvant chemotherapy.

Methods: The expression of ERCC1 gene was detected by RT-PCR in 40 breast cancer patients and in 14 patients treated with neoadjuvant chemotherapy.

Results: Positive expression of ERCC1 gene was detected by RT-PCR in 35.