Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

Background: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A and lamin C (LMNA).

The intracellular controlled release from bioresponsive mesoporous silica with folate as both targeting and capping agent.

A smart mesoporous silica nanocarrier with intracellular controlled release is fabricated, with folic acid as dual-functional targeting and capping agent. The folate not only improves the efficiency of the nanocarrier internalized by the cancer cells, but also blocks the pores of the mesoporous silica to eliminate premature leakage of the drug. With disulfide bonds as linkers to attach the dual-functional folate within the surface of mesoporous silica, the controlled release can be triggered in the presence of reductant dithiothreitol (DTT) or glutathione (GSH).

[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].

Objective: To improve the diagnosis and management of Duchenne/Becker muscular dystrophy(DMD/BMD).

Methods: Clinical features of 90 cases of DMD/BMD were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and multiplex ligation-dependent probe amplification (MLPA) was applied to detect DMD gene to identify genetic mutation.

[Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].

Objective: To study the rate of subtelomeric rearrangements in patients with idiopathic mental retardation (MR) and to search the cause of MR.

Methods: DNA was extracted and purified from peripheral blood leukocytes of 180 patients with idiopathic MR. DNA was tested using specific subtelomeric multiplex ligation-dependent probe amplification (MLPA) kits P036B/C and P070 according to manufacturer's instructions.

[The correlation of CAGs repeat size with age of onset in patients with Kennedy's disease].

Objective: To investigate the correlation of CAGs repeat size and age of onset in patients with Kennedy's Disease (KD).

Methods: We detected the number of CAG repeats in the androgen receptor genes in 30 patients with KD. The correlation of CAGs repeat size with age of onset was analyzed.

[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].

Objective: To verify the sensitivity and reliability of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and to develop a simple, accurate, reliability method of genetic diagnosis for AS and PWS.

Methods: Peripheral blood samples were collected from 4 suspected AS patients, 2 suspected PWS patients, 2 normal persons, and 2 molecular biologically proven positive controls (1 AS patient and 1 PWS patient). DNA was extracted and purified.

[Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].

Objective: To detect subtelomeric rearrangement in patients with idiopathic mental retardation/developmental delays (MR/DD) and to provide new methods and evidence for the etiologic diagnosis of MR/DD in China.

Methods: 1.

Inclusion Criteria: (1) Moderate to severe MR/DD; (2) no definite perinatal brain injury; (3) no toxication, hypoxia, infection of central nervous system and cranial trauma; (4) routine karyotyping is normal; (5) no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; (6) no mutation of FMR1 gene in male patients plus one of the following criteria: (1) positive family history of MR; (2) positive family history of miscarriages and perinatal deaths; (3) abnormal growth; (4) facial and non-facial dysmorphism.

[Comparison of Rhesus boxes in Hans and Uighurs].

Objective: To study the difference and similarity between Hans and Uighurs in regard to Rhesus box and its significance.

Methods: The sequence specific primers of upstream, downstream and hybrid Rhesus boxes were designed on the basis of RHD gene sequence. The upstream, downstream and hybrid Rhesus boxes were determined by polymerase chain reaction-sequence specific primer(PCP-SSP) and mismatched PCR.

[Study on detection of samples of Rh-weak D and Del].

To study the detection of weak D and Del from samples initially screened RhD(-), RhD phenotype was initially screened by routine serological test, out of which weak D phenotype was detected by indirect antiglobulin test (IAT) and Del phenotype was detected by chloroform-trichloroethylene absorption-elution test. The results showed that 56 samples were RhD(-) confirmed by routine serology test, which were screened out of 26 200 donors, among them 5 samples were typed as weak D by IAT and 9 cases samples were typed as Del by absorption-elution test. In conclusion, the samples which typed as RhD(-) by routine serological test must be identified by IAT and chloroform-trchloroethylene absorption test is order to detect weak D and Del phenotype.

[Determination of human RHD gene rhesus box and its significance].

The aim was to determine RHD zygosity, further to investigate genetic structure of RHD gene, and to predict hemolytic disease of newborn (HDN). The upstream box, downstream box, and hybrid box of RHD gene were determined by PCR-SSP with 4 primers under the same conditions. The results showed that only hybrid box could be determined in RHD(-)/RHD(-) homozygosity.

[Exon polymorphism of human RHD gene].

Objective: To study exon polymorphism of human RHD gene and investigate the genetic mechanism of RhD-negative individuals.

Methods: PCR using sequence-specific primers (PCR-SSP) was performed on 40 RhD-positive, 120 RhD-negative and 2 weak D blood samples.

Results: All 10 exons could be detected in the 40 RhD-positive and 2 weak D samples.