RESUMEN
OBJECTIVE: To study the clinical features of children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. METHODS: A retrospective analysis was performed for the clinical data of 115 children who were diagnosed with SARS-CoV-2 infection in the Wuhan Children's Hospital, including general information, history of close contact with individuals of SARS-CoV-2 infection, early clinical symptoms, laboratory examination results, and lung CT results. RESULTS: Among the 115 children, there were 73 boys (63.5%) and 42 girls (36.5%), with a male/female ratio of 1:0.58. Of the 115 children, 105 (91.3%) had a definite history of close contact with individuals of SARS-CoV-2-infection. An increase in alanine aminotransferase was observed in 11 children (9.6%) and an increase in CK-MB was found in 34 children (29.6%). As for clinical symptoms, 29 children (25.2%) had fever, 47 (40.9%) had respiratory symptoms (including cough, rhinorrhea, and nasal congestion), and 61 (53.0%) were asymptomatic. Lung CT findings showed ground glass opacity, fiber opacities, patchy changes, and pulmonary consolidation in 49 children (42.6%), among whom 2 children had "white lung"; 39 children (33.9%) only had lung texture enhancement and 27 children (23.5%) had no pulmonary imaging changes. Among the 115 children, 3 were critically ill, among whom 1 had been cured and the other 2 were under continuous treatment. CONCLUSIONS: Most of the children with SARS-CoV-2 infection have a close contact history. Critical cases are rare and there is a high proportion of asymptomatic infection.
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Infecciones por Coronavirus , Pandemias , Neumonía Viral , Alanina Transaminasa/sangre , Enfermedades Asintomáticas , Betacoronavirus , COVID-19 , Prueba de COVID-19 , Niño , Técnicas de Laboratorio Clínico , Trazado de Contacto , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/diagnóstico por imagen , Tos/etiología , Enfermedad Crítica , Femenino , Fiebre/etiología , Humanos , Masculino , Neumonía Viral/complicaciones , Neumonía Viral/diagnóstico por imagen , Estudios Retrospectivos , SARS-CoV-2 , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
As an advanced concept in international pharmaceutical research,quality by design( QbD) can fulfill the strategic requirements of drug quality from testing to design. In this paper,the extraction process of Yanggong Prescription which was the modified Siwu Decoction was optimized based on QbD concept. With the extraction amount of solid matter,the content of ferulic acid and the content of paeoniflorin as critical quality attributes( CQAs),the failure mode and effect analysis( FMEA) was used to screen potential critical process parameters( p CPPs). The mathematical model was established by Box-Behnken experimental design to investigate the interaction between critical process parameters( CPPs) and CQAs. Then the design space for the extraction process of Yanggong Prescription was further established and optimized. Analysis of variance showed that the variance of all models was significant( P<0. 01),and the lack-of-fit value was not significant,indicating that the model was statistically significant. The relationship between various factors and the response values could be functionalized by the established models. Finally,through the optimization of the design space,the optimum extraction process of Yanggong Prescription was obtained as follows: 3 extraction times,122 minutes extraction,and 7 times of water adding. The extraction process of Yanggong Prescription based on the QbD concept was robust and reliable,which would provide guidance for the process development and quality control of its formulations.
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Proyectos de Investigación , Agua , Composición de Medicamentos , Control de CalidadRESUMEN
Using vermicompost (CV) as raw material, its biochar (CVC350) was prepared at 350â and then their physio-biochemical properties were characterized. Furthermore, adsorption studies were performed in a batch system for removing Pb2+ and Cd2+ ions from solution. The characterization results revealed much higher surface area, smaller pore size, greater aromaticity and nonpolarity of CVC350 as compared to CV. Batch adsorption experiments revealed that both the adsorption of Pb2+ and Cd2+ onto CV or CVC350 fitted Langmuir isotherm model very well, and the maximum adsorption capacity of Pb2+ was in the order of CVC350>CV, but no difference was observed for the adsorption capacity of Cd2+ between CV and CVC350. The desorption studies showed that both CV and CVC350 had much higher adsorption rate for Pb2+ than that for Cd2+, and the Cd2+ adsorbed could be more easily desorbed from CV and CVC350 compared with that for the Pb2+ adsorbed. Both the dynamic adsorption process of Pb2+ onto CV and CVC350 was a rapid process, however, the adsorption process of Cd2+ onto CV and CVC350 could be separated into the first rapid step and the second slower step. The adsorption capacity of Pb2+ or Cd2+ onto CV and CVC350 was only affected by the much lower initial pH of the solution, besides, the adsorption capacity of Cd2+ onto CV and CVC350 was relatively more influenced by the initial pH compared with that of Pb2+. Moreover, FTIR analysis showed that the adsorption of Pb2+ and Cd2+on CV depended on the active sites such as aliphatic alcohol, aliphatic acid,carbonates as well as phosphate while that on CVC350 mainly relied on aromatic alcohol, aromatic acid and carbonates.
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Cadmio/aislamiento & purificación , Carbón Orgánico , Plomo/aislamiento & purificación , Estiércol , Contaminantes del Suelo/aislamiento & purificación , Adsorción , Animales , Bovinos , Femenino , CinéticaRESUMEN
Systemic lupus erythematosus (SLE) is a complex systemic disease influenced by genetic and environmental factors. The exact pathogenesis of SLE is still unknown. Recently, several genome-wide association studies (GWA) in European population have found many novel susceptibility genes for SLE including TNFAIP3. In order to examine whether TNFAIP3 is associated with SLE in Chinese Han population, we genotyped one of its non-synonymous mutation SNP rs2230926, showing significant association evidence with SLE in European population, with 1,420 cases and 4,461 controls of Chinese Han by using Sequenom MassArray system. Highly significant association between SNP rs2230926 and SLE of Chinese Han was detected [OR = 1.65, 95% confidence interval (CI): 1.392-1.986, P = 2.03 x 10(-8)]. Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and some other subphenotypes of the disease. Our findings suggest that SNP rs2230926 in the TNFAIP3 might be a common genetic factor for SLE within different populations in terms of Chinese Han and European population.
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Pueblo Asiatico/genética , Etnicidad/genética , Predisposición Genética a la Enfermedad , Péptidos y Proteínas de Señalización Intracelular/genética , Lupus Eritematoso Sistémico/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Estudios de Casos y Controles , China , Proteínas de Unión al ADN , Femenino , Regulación de la Expresión Génica , Frecuencia de los Genes/genética , Humanos , Leucocitos Mononucleares/metabolismo , Masculino , Proteína 3 Inducida por el Factor de Necrosis Tumoral alfaRESUMEN
We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 x 10(-25) < or = P(combined) < or = 2.77 x 10(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x 10(-42) < or = P(combined) < or = 5.18 x 10(-12)). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.
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Pueblo Asiatico/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Lupus Eritematoso Sistémico/genética , Femenino , Humanos , MasculinoAsunto(s)
Pueblo Asiatico/genética , Hipotricosis/genética , Mutación Missense , Factores de Transcripción/genética , Regiones no Traducidas 5' , China , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad , Humanos , Hipotricosis/etnología , Hipotricosis/patología , Masculino , Sistemas de Lectura Abierta , Fenotipo , Adulto JovenRESUMEN
Piebaldism is an autosomal dominant disorder characterized by congenital leukoderma, mostly affecting forehead, abdomen and knee. Previous studies have revealed that piebaldism is caused by mutations of the KIT gene, which encodes the cell surface transmembrane tyrosine kinase receptor for KIT ligand. We reported here a Chinese Han family with piebaldism, and performed mutation detection of KIT gene by direct sequencing. A novel missense mutation C58G was identified in the patients, but not in the healthy individuals from the family and 100 unrelated controls. This study contributes to the database on KIT in piebaldism and enriches the knowledge about the genotype/phenotype correlation.
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Familia , Mutación Missense , Piebaldismo/genética , Proteínas Tirosina Quinasas/metabolismo , Proteínas Proto-Oncogénicas c-kit/genética , Dominio Catalítico/genética , Niño , China , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Linaje , Piebaldismo/metabolismo , Piebaldismo/patología , Piebaldismo/fisiopatología , Polimorfismo Genético , Proteínas Tirosina Quinasas/genética , Proteínas Proto-Oncogénicas c-kit/metabolismoRESUMEN
We report the first large genome-wide association study (GWAS) in a Chinese population to identify susceptibility variants for psoriasis using a two-stage case-control design. In the first stage, we carried out a genome-wide association analysis in 1,139 cases and 1,132 controls of Chinese Han ancestry using Illumina Human 610-Quad BeadChips. In the second stage, we took top SNPs forward for replication in two independent samples of 5,182 cases and 6,516 controls of Chinese Han ancestry, and 539 cases and 824 controls of Chinese Uygur ancestry. In addition to the strong replication for two known susceptibility loci MHC (rs1265181, P = 1.93 x 10(-208), OR = 22.62) and IL12B (rs3213094, P(combined) = 2.58 x 10(-26), OR = 0.78), we identified a new susceptibility locus within the LCE gene cluster on 1q21 (rs4085613, P(combined) = 6.69 x 10(-30), OR = 0.76).
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Cromosomas Humanos Par 1 , Proteínas Ricas en Prolina del Estrato Córneo/genética , Predisposición Genética a la Enfermedad , Psoriasis/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Subunidad p40 de la Interleucina-12/genética , Desequilibrio de Ligamiento , Complejo Mayor de Histocompatibilidad/genética , Masculino , Persona de Mediana Edad , Familia de Multigenes , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Vitiligo is a common skin and hair depigmentary disorder that results from selective destruction of melanocytes. It occurs in a typical multifactorial, polygenic inheritance. Several studies have indicated that vitiligo is associated with some autoimmune diseases. In this paper we examined 6,516 vitiligo patients including clinical characteristics, familial involvement, and their association with other autoimmune diseases. Compared with sporadic vitiligo probands, familial vitiligo probands have earlier age onset and longer disease duration. The prevalences of four autoimmune diseases namely rheumatoid arthritis, chronic urticaria, alopecia areata and psoriasis, were significantly elevated in generalized vitiligo probands and their first-degree relatives. The prevalences of chronic urticaria, rheumatoid arthritis, psoriasis were much higher in familial generalized vitiligo probands. In addition, the prevalences of diabetes mellitus and asthma were also higher in familial vitiligo probands. These findings indicate that generalized vitiligo may share common genetic aetiologic links with other autoimmune diseases, and the genetic component of familial generalized vitiligo is stronger.
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Enfermedades Autoinmunes/etnología , Enfermedades Autoinmunes/genética , Vitíligo/etnología , Vitíligo/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alopecia Areata/etnología , Alopecia Areata/genética , Artritis Reumatoide/etnología , Artritis Reumatoide/genética , Asma/epidemiología , Niño , Preescolar , China/epidemiología , Diabetes Mellitus/epidemiología , Femenino , Encuestas Epidemiológicas , Humanos , Lactante , Masculino , Persona de Mediana Edad , Prevalencia , Psoriasis/etnología , Psoriasis/genética , Urticaria/etnología , Urticaria/genética , Adulto JovenRESUMEN
PSORS1 (psoriasis susceptibility gene 1) is a major susceptibility locus for psoriasis. Several fine-mapping studies have highlighted a 300-kb candidate region of PSORS1 where multiple biologically plausible candidate genes were suggested. The most recent study has indicated HLA-Cw6 as the primary PSORS1 risk allele within the candidate region in a Caucasian population. In this study, a family-based association analysis of the PSORS1 locus was performed by analyzing 10 polymorphic microsatellite markers from the PSORS1 region as well as HLA-B, HLA-C and CDSN loci in 163 Chinese families of psoriasis. Five marker loci show strong evidence (P<10(-3)), and one marker locus shows weak evidence (P = 0.04) for association. The haplotype cluster analysis showed that all the risk haplotypes are Cw6 positive and share a 369-kb region of homologous marker alleles which carries all the risk alleles, including HLA-Cw6 and CDSN*TTC, identified in this study. The recombinant haplotype analysis of the HLA-Cw6 and CDSN*TTC alleles in 228 Chinese families showed that the HLA-Cw6(-)/CDSN*TTC(+) recombinant haplotype is clearly not associated with risk for psoriasis (TratioNT = 29:57, p = 0.0025) in a Chinese population, suggesting that the CDSN*TTC allele itself does not confer risk without the presence of the HLA-Cw6 allele. The further exclusion analysis of the non-risk HLA-Cw6(-)/CDSN*TTC(+) recombinant haplotypes with common recombination breakpoints has allowed us to refine the location of PSORS1 to a small candidate region. Finally, we performed a conditional linkage analysis and showed that the HLA-Cw6 is a major risk allele but does not explain the full linkage evidence of the PSORS1 locus in a Chinese population. By performing a series of family-based association analyses of haplotypes as well as an exclusion analysis of recombinant haplotypes, we were able to refine the PSORS1 gene to a small critical region where HLA-C is a strong candidate to be the PSORS1 susceptibility gene.
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Pueblo Asiatico/genética , Antígenos HLA-C/genética , Proteínas/genética , Psoriasis/genética , Psoriasis/inmunología , Alelos , Estudios de Casos y Controles , China , Mapeo Cromosómico , Femenino , Ligamiento Genético , Predisposición Genética a la Enfermedad , Genotipo , Glicoproteínas/genética , Haplotipos , Humanos , Péptidos y Proteínas de Señalización Intercelular , Masculino , Recombinación GenéticaAsunto(s)
Pueblo Asiatico/genética , Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Salud de la Familia , Femenino , Duplicación de Gen , Humanos , Persona de Mediana Edad , Mutación , Esclerosis Tuberosa/etnología , Esclerosis Tuberosa/patología , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
Ephelides are one of the most common lesions of skin pigmentation mainly on sun-exposed skin. Although they are benign pigmented spots, ephelides cause an increasing concern because of the wide-spreading cosmetic attention of society and possible association with skin cancer. However, there have been few reports on the prevalence of ephelides. The objective of this study was to estimate the prevalence of ephelides and the possible role of genetic factors in the pathogenesis of ephelides in the Han Chinese adolescents. Assessment of the skin was conducted in college students of the Anhui Medical University in China. Information on common skin conditions including ephelides were collected from 9697 Han Chinese college students. A total of 1,841 ephelides cases and 582 normal controls were identified and they, along with their first-degree relatives, provided information on ephelides conditions. The odds ratio was used to estimate the relative risk of ephelides between the first-degree relatives of cases and controls. The overall prevalence of ephelides was estimated to be 19.0% in college students. Ephelides are more common in female students (26.1%) than in males (12.1%; chi(2) = 06.7, P < 0.05). The mean ages of onset for males and females were 12.42 years (+/-4.61) and 12.88 years (+/-3.90; t = 2.11, P < 0.05), respectively. Positive family history was observed in 932 of the 1,841(50.6%) patients. The severity of ephelides in females of light skin was found to be significantly higher than that in males with skin of similar color (U = 3.904, P < 0.001). The risk of having ephelides among first-degree relatives of cases was significantly higher than that for the relatives of normal controls (odds ratio 5.75, 95% confidence interval (CI): 4.61-7.18, P < 0.001). Our study provided the first information on the prevalence of ephelides in Chinese adolescents and suggests that familial factors are important in determining individual susceptibility to ephelides.
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Melanosis/epidemiología , Núcleo Familiar , Adolescente , Factores de Edad , Edad de Inicio , Estudios de Casos y Controles , Niño , China/epidemiología , Susceptibilidad a Enfermedades , Femenino , Humanos , Masculino , Melanosis/genética , Prevalencia , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Luz SolarRESUMEN
OBJECTIVE: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family. METHOD: All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls. RESULTS: We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls. CONCLUSION: The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.
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ATPasas Transportadoras de Calcio/genética , Pénfigo Familiar Benigno/genética , Pueblo Asiatico , Humanos , Mutación , LinajeRESUMEN
Psoriasis is a heterogeneous disease for which nine linkage loci (PSORS loci 1-5 and PSORS7-10) have been accepted by the Human Genome Nomenclature Committee and an additional 16 potential susceptibility loci have been reported so far. Our previous genome-wide scan in 61 Chinese Han psoriasis vulgaris families found two susceptibility loci at 6p21.3 and 4q31 and additional suggestive linkage evidence at other regions, including 9q33. In this follow-up study, the linkage evidence at 9q33 was further investigated using an expanded sample of 160 families and improved marker coverage. Our follow-up linkage analysis of the 160 families demonstrated strong linkage evidence (P < or = 0.000022) throughout a region between 133.38 and 146.23 cM with a maximum nonparametric linkage (NPL) score of 4.64 (P = 0.00000023) and a heterogeneity LOD (HLOD) score of 5.03 (alpha = 46%) at 142.39 cM near the marker D9S290. By stratifying the 160 families into the subtypes of 130 early-onset and 30 late-onset families, we revealed stronger linkage evidence in the early-onset psoriasis families with a maximum multipoint HLOD score of 6.48 (alpha = 58%) and a maximum NPL score of 4.69 (P = 0.00000012) near marker D9S290. Our follow-up study has confirmed a novel susceptibility locus at 9q33-34 for early-onset psoriasis in the Chinese population.
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Pueblo Asiatico/genética , Cromosomas Humanos Par 9/genética , Predisposición Genética a la Enfermedad/etnología , Psoriasis/etnología , Psoriasis/genética , Edad de Inicio , Pueblo Asiatico/etnología , China/etnología , Femenino , Ligamiento Genético , Marcadores Genéticos , Humanos , Escala de Lod , MasculinoRESUMEN
Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F) and one splice-site mutation (1288-6A-->G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype-phenotype correlations.
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Enfermedad de Darier/enzimología , Enfermedad de Darier/genética , Mutación , ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico/genética , Pueblo Asiatico/genética , Secuencia de Bases , China , ADN/genética , Análisis Mutacional de ADN , Enfermedad de Darier/patología , Femenino , Genes Dominantes , Humanos , MasculinoRESUMEN
BACKGROUND: Some studies suggested that human HLA status may potentiate development of the AA phenotype and exists ethic differences. No report has been published about HLA class I alleles associated with AA in Chinese Hans. OBJECTIVE: To study the distribution of HLA class I alleles and haplotypes in Chinese Hans AA patients and the relation of HLA class I profile with age of onset, severity, duration of current attack, past history and family history. METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA class I alleles in 192 patients with AA and 252 healthy controls in Chinese Hans. RESULTS: The frequencies of HLA-A*02, -A*03, -B*18, -B*27, -B*52 and -Cw*0704 were significantly higher in patients than in controls. The A*2-B*18, A*2-B*27, A*2-B*52, A*2-Cw*0704, B*18-Cw*0704, B*27-Cw*0704, B*52-Cw*0704 were found as high-risk haplotypes in developing AA in this study. The HLA-A*02 and -A*03 were observed increased frequencies in patients less than 50% hair loss, and HLA-B*27 equally in patients of 50-99% hair loss, alopecia totalis and alopecia universalis. The frequencies of HLA-A*02 and -B*27 were significantly raised in recurrent patients, and ones of HLA-A*02, -A*03 and -B*27 similarly in patients without a positive family history. CONCLUSION: This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.
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Alelos , Alopecia Areata/genética , Pueblo Asiatico/genética , Genes MHC Clase I , Adolescente , Adulto , Edad de Inicio , Anciano , Alopecia Areata/epidemiología , Alopecia Areata/inmunología , Niño , Preescolar , China/epidemiología , ADN/genética , Femenino , Frecuencia de los Genes , Antígeno HLA-A2/genética , Antígeno HLA-A3/genética , Antígeno HLA-B27/genética , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Reacción en Cadena de la Polimerasa , Índice de Severidad de la EnfermedadRESUMEN
Pompholyx is a rather common disorder characterized by recurrent crops of vesicles or bullae on the lateral aspects of the fingers, as well as the palms and soles with non-erythematous skin. Until now, very few large families have been reported, so no gene or locus has been identified. Here, we performed a genome-wide search in a large Chinese family to map the chromosome location of the responsible gene. We identified a locus at chromosome 18q22.1-18q22.3 with a maximum two-point LOD score of 3.61 at marker D18S1131 (theta = 0.00). Haplotype analyses indicated that the disease gene is located within 12.07 cM region between markers D18S465 and D18S1362, which corresponds to 8.0 Mb. This is the first locus identified for pompholyx. It will aid future identification of the responsible gene, which will be useful for the understanding of the molecular mechanism of pompholyx.
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Cromosomas Humanos Par 18/genética , Eccema Dishidrótico/genética , Genes Dominantes , Linaje , Adolescente , Adulto , Anciano , Pueblo Asiatico , Niño , Mapeo Cromosómico , Eccema Dishidrótico/patología , Femenino , Ligamiento Genético , Haplotipos , Humanos , Masculino , Piel/patologíaRESUMEN
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. A locus for this disorder was localized to chromosome 8p, but no gene responsible for it has been identified. To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH. We performed a genome-wide scan in this family. Two-point linkage analysis was performed using Linkage programs version 5.10 software and haplotype was constructed with Cyrillic Version 2.02 software. We failed to confirm the previous locus for MUHH at chromosome 8p and obtained the conformed evidence for linkage at chromosome 1. Two-point logarithm of odds ratio scores > or =3 were observed at markers D1S2746 and D1S2881. Haplotype analysis localized this locus to a 42 Mb region. The previous results and this study have shown that MUHH is a genetically heterogeneous disorder. Our family was mapped to a 17.5 cM region between markers D1S248 and D1S2345.