[The relationship between RUNX3 gene mutation and keloid].

OBJECTIVE: To study the mutation in RH120480 fragment of RUNX3 gene among the Chinese patients with keloid. METHODS: 20 samples of keloids were collected with each patient's venous blood sample as normal control group. The genomic DNA was extracted from each sample. RH120480 fragment of RUNX3 gene was amplified by Polymerase Chain Reaction (PCR). The amplification products were analyzed by denaturing high-performance liquid chromatography (DHPLC). Some fragments were sequenced directly and then compared with the GenBank data. RESULTS: By DHPLC, the results of all the blood samples showed single chromatographic peak indicating homoduplexes, meanwhile the results of keloid tissue samples showed double peak indicating heteroduplexes. Through gene sequencing, 19 cases showed gene mutation among the 20 samples of keloid. The mutation incidence was 95%. Two mutation sites were detected including base A absence in 96th sites and base C insert in 279th sites. The base A absence rate was 90% (18/20) in keloid group, and 10% (2/20) in control group. The base C insert mutation rate was 95% (19/20) in keloid group, and 0% (0/20) in control group. There was significant difference in the mutation rate between two groups on the two mutation sites. CONCLUSIONS: There is a strong correlation between the RH120480 fragment of RUNX3 gene mutation and Keloid. RUNX3 gene could be possibly a scar suppressor gene (SSG).

[Comparative genomic hybridization analysis of nonsyndromic cleft lip with palate].

OBJECTIVE: To identify the genetic alterations in nonsyndromic cleft lip and palate (NSCLP). METHODS: Comparative genomic hybridization was applied to investigate the genomic imbalance (the gain or loss of genetic material) in 7 cases of NSCLP. RESULTS: It showed that the loss of chromosome DNA copies happened in chromosome 6, 7, 10, 13, 14, 16, 20, 22 and the gain of chromosome DNA copies happened in chromosome 5, 15, 18, 19. Conclusions 13q had a high frequency (71.4%) of chromosome loss. CONCLUSIONS: Abnormal chromosome DNA copies happen in all the patients with NSCLP. Most of the patients have chromosome DNA copies loss. It suggests that loss of inhibitory gene may be related to the NSCLP. The related inhibitory gene may locate in 13q.

[Mapping of the loss of heterozygosity for chromosome 1 pter-36.21 in keloid].

OBJECTIVE: The aim of this study was to investigate the loss of heterozygosity (LOH) on chromosome 1 pter-36.21 of keloid in order to locate the deletion areas probably harboring scar suppressor genes. METHODS: Using polymerase chain reaction ( PCR )-denaturing polyacrylamide gel electrophoresis, 25 samples of keloid tissues and peripheral blood were analyzed. RESULTS: 15 out of 25 samples of keloid tissues exhibited LOH in at least one microsatellite locus. There were deletions at more than one locus of one keloid tissue. No MSI was found. The frequency of LOH was remarkably higher in the keloid tissues (n = 25, 15, 60%) than in the normal control samples (n = 25, 1, 4%). The frequency of LOH in D1S243, D1S468, D1S507 and D1S199 was as following: (n= 25, 7, 28%), (n =25, 10, 40%), (n = 25, 13, 52%) and (n= 25, 3, 12%). The frequency of LOH in D1S243, D1S468, D1S507 were statistically significant. CONCLUSION: The most common LOH occurred at D1S243-D1S468-D1S507 might imply the existence of potential tumor suppressor gene of a subset of keloid , while MSI on 1 pter-36.21 may not a crucial event.

[The function of basic fibroblastic growth factor on revascularization of pearl fat graft transplantation].

OBJECTIVE: To investigate the function of basic fibroblastic growth factor on the survival of fat transplantation. METHODS: Basic fibroblastic growth factor was used in pearl fat graft transplantation on experimental animal models. Microvessels densities both on experimental sides and control sides were quantitatively researched in various periods. The growth course of vessels was observed. RESULTS: Microvessels can be observed clearly. The Microvessels densities both on experimental sides and control sides raised gradually. The density reached highest in 14 days on experimental side and in 28 days on control side, and fell down slightly later. The densities on every experimental sides were higher than that on control sides. CONCLUSIONS: Basic fibroblastic growth factor can effectually accelerate the growth of blood vessels in pearl fat graft.

[Chromosomal aberration in human keloid analyzed by comparative genomic hybridization].

OBJECTIVE: To identify the genetic alteration in human keloid. METHODS: Comparative genomic hybridization was applied in 6 cases of keloid to investigate the genomic imbalance (the gain or loss of genetic material). RESULTS: The study showed that the loss of chromosome DNA copies included chromosome, 1,7,9,13,16,17,18,19,20,22. Among them, the frequently detected chromosome loss was chromosome 1 p(66.7%), 16 (83.3%), 20 (83.3%) and 22 (83.3%). The minimum overlapping regions were 1 pter-32.2,16p13.2p11.l,20q11.1-q13.2 and 16p13.2-p11.1. Frequent gain of DNA copy numbers was not found in the special regions. CONCLUSIONS: The mapping of DNA copy variation frequency in keloid showed that there may be inhibitory genes in chromosomes 1p,16,20,22. The loss of these genes may be involved in the development and progress of keloid.

[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate].

OBJECTIVE: To study the association of TGF-alpha gene Taq I polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese. METHODS: 107 patients with NSCL/P and 136 healthy controls were examined for TGF-alpha/Taq I genotypes. TGF-alpha/Taq I typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific Taq I restriction enzyme (PCR-RELP). RESULTS: The C2 allele frequency of TGF-alpha/Taq I in patients with NSCL/P (16%) was significantly higher than that in healthy controls (8%). The C2 genotype frequency of TGF-alpha/Taq I in NSCL/P patients with positive family history (12.5%) was significantly higher than that in healthy controls. CONCLUSION: These findings demonstrate the role of TGF-alpha as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human. These findings suggest that a family history of clefting may correlate with the TGF-alpha Taq I rare variation.

[FTIR study on the hypertrophicscar and normal skin tissues].

40 cases of hypertrophicscar (HS) tissues and corresponding normal skin tissues were studied by FTIR technique, and the results showed that all of the HS and normal tissues can be classified into three kinds. Furthermore, the absorption bands of biomacromolecule in collagen, protein, nucleic acid and lipid of hypertrophicscar are stronger than those of normal tissues. But there is no significant difference in A1,063/A1,548 between HS and normal tissues. It is suggested that the cells of HS could still be normally growing and should not be scathed in the treatment process.

[The expression of EST and ER in hemangioma with its clinical value].

OBJECTIVE: To study the relationship between estrogen and the development of hemangioma. METHODS: The expression of EST and ER in samples from the thirty-eight cases of hemangioma and six cases of normal control group was examined with the immunohistochemical steptavidin peroxidase conjugated method (SP method). RESULTS: The EST in capillary hemangioma expressed significantly higher than in the cavernous hemangioma, the racemose hemangioma or the control group. Although the EST in cavernous hemangioma and racemose hemangioma also expressed higher than in the control, there are no statistical differences among them. The ER only expressed in some cases in the capillary hemangioma group. No sexual difference was shown in the expressions of the EST and the ER. CONCLUSION: This study shows that there may be a relationship existed between the estrogen and the capillary hemangioma. It may indicate that some capillary hemangioma may be possibly treated by the drugs.